SUSPENSION NOTICE:2024-08-07T19:00:00-0500 — 2024-09-25T08:00:00-0500
New user registrations, changes to existing user profiles, and changes to user credentials will be suspended for several weeks.
This allows us to avoid multi-day, broad service outages as we continue to migrate off our current cloud hosting provider.
New user registrations, changes to existing user profiles, and changes to user credentials will be suspended for several weeks.
This allows us to avoid multi-day, broad service outages as we continue to migrate off our current cloud hosting provider.
Linked Data
dbSNP Id:
rs1813206718
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.143282062_143282063insAGAAAGTCGAATTAATAGCTTTTATTGTA , CM000667.2:g.143282062_143282063insAGAAAGTCGAATTAATAGCTTTTATTGTA | GRCh38 |
| NC_000005.9:g.142661627_142661628insAGAAAGTCGAATTAATAGCTTTTATTGTA , CM000667.1:g.142661627_142661628insAGAAAGTCGAATTAATAGCTTTTATTGTA | GRCh37 |
| NC_000005.8:g.142641820_142641821insAGAAAGTCGAATTAATAGCTTTTATTGTA | NCBI36 |
| NG_009062.1:g.158451_158452insACAATAAAAGCTATTAATTCGACTTTCTT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000394464.7:c.2182-21_2182-20insACAATAAAAGCTATTAATTCGACTTTCTT MANE Select | ENSP00000377977.2:n.2182-21_2182-20insACAATAAAAGCTATTAATTCGAC... | |
| ENST00000652686.1:c.2089-21_2089-20insACAATAAAAGCTATTAATTCGACTTTCTT | ENSP00000498663.1:n.2089-21_2089-20insACAATAAAAGCTATTAATTCGAC... | |
| ENST00000231509.7:c.2185-21_2185-20insACAATAAAAGCTATTAATTCGACTTTCTT | ENSP00000231509.3:n.2185-21_2185-20insACAATAAAAGCTATTAATTCGAC... | |
| ENST00000343796.6:c.2182-21_2182-20insACAATAAAAGCTATTAATTCGACTTTCTT | ENSP00000343205.2:n.2182-21_2182-20insACAATAAAAGCTATTAATTCGAC... | |
| ENST00000394464.6:c.2182-21_2182-20insACAATAAAAGCTATTAATTCGACTTTCTT | ENSP00000377977.2:n.2182-21_2182-20insACAATAAAAGCTATTAATTCGAC... | |
| ENST00000394466.6:c.2185-21_2185-20insACAATAAAAGCTATTAATTCGACTTTCTT | ENSP00000377979.2:n.2185-21_2185-20insACAATAAAAGCTATTAATTCGAC... | |
| ENST00000415690.6:c.2181+506_2181+507insACAATAAAAGCTATTAATTCGACTTTCTT | ENSP00000387672.2:n.2181+506_2181+507insACAATAAAAGCTATTAATTCG... | |
| ENST00000424646.6:c.2104-21_2104-20insACAATAAAAGCTATTAATTCGACTTTCTT | ENSP00000405282.2:n.2104-21_2104-20insACAATAAAAGCTATTAATTCGAC... | |
| ENST00000503201.1:c.2182-21_2182-20insACAATAAAAGCTATTAATTCGACTTTCTT | ENSP00000427672.1:n.2182-21_2182-20insACAATAAAAGCTATTAATTCGAC... | |
| ENST00000504572.5:c.2185-21_2185-20insACAATAAAAGCTATTAATTCGACTTTCTT | ENSP00000422518.1:n.2185-21_2185-20insACAATAAAAGCTATTAATTCGAC... | |
| NM_000176.2:c.2182-21_2182-20insACAATAAAAGCTATTAATTCGACTTTCTT | NP_000167.1:n.2182-21_2182-20insACAATAAAAGCTATTAATTCGACTTTCTT... | |
| NM_001018074.1:c.2182-21_2182-20insACAATAAAAGCTATTAATTCGACTTTCTT | NP_001018084.1:n.2182-21_2182-20insACAATAAAAGCTATTAATTCGACTTT... | |
| NM_001018075.1:c.2182-21_2182-20insACAATAAAAGCTATTAATTCGACTTTCTT | NP_001018085.1:n.2182-21_2182-20insACAATAAAAGCTATTAATTCGACTTT... | |
| NM_001018076.1:c.2182-21_2182-20insACAATAAAAGCTATTAATTCGACTTTCTT | NP_001018086.1:n.2182-21_2182-20insACAATAAAAGCTATTAATTCGACTTT... | |
| NM_001018077.1:c.2182-21_2182-20insACAATAAAAGCTATTAATTCGACTTTCTT | NP_001018087.1:n.2182-21_2182-20insACAATAAAAGCTATTAATTCGACTTT... | |
| NM_001020825.1:c.2181+506_2181+507insACAATAAAAGCTATTAATTCGACTTTCTT | NP_001018661.1:n.2181+506_2181+507insACAATAAAAGCTATTAATTCGACT... | |
| NM_001024094.1:c.2185-21_2185-20insACAATAAAAGCTATTAATTCGACTTTCTT | NP_001019265.1:n.2185-21_2185-20insACAATAAAAGCTATTAATTCGACTTT... | |
| NM_001204258.1:c.2104-21_2104-20insACAATAAAAGCTATTAATTCGACTTTCTT | NP_001191187.1:n.2104-21_2104-20insACAATAAAAGCTATTAATTCGACTTT... | |
| NM_001204259.1:c.1927-21_1927-20insACAATAAAAGCTATTAATTCGACTTTCTT | NP_001191188.1:n.1927-21_1927-20insACAATAAAAGCTATTAATTCGACTTT... | |
| NM_001204260.1:c.1915-21_1915-20insACAATAAAAGCTATTAATTCGACTTTCTT | NP_001191189.1:n.1915-21_1915-20insACAATAAAAGCTATTAATTCGACTTT... | |
| NM_001204261.1:c.1891-21_1891-20insACAATAAAAGCTATTAATTCGACTTTCTT | NP_001191190.1:n.1891-21_1891-20insACAATAAAAGCTATTAATTCGACTTT... | |
| NM_001204262.1:c.1237-21_1237-20insACAATAAAAGCTATTAATTCGACTTTCTT | NP_001191191.1:n.1237-21_1237-20insACAATAAAAGCTATTAATTCGACTTT... | |
| NM_001204263.1:c.1192-21_1192-20insACAATAAAAGCTATTAATTCGACTTTCTT | NP_001191192.1:n.1192-21_1192-20insACAATAAAAGCTATTAATTCGACTTT... | |
| NM_001204264.1:c.1177-21_1177-20insACAATAAAAGCTATTAATTCGACTTTCTT | NP_001191193.1:n.1177-21_1177-20insACAATAAAAGCTATTAATTCGACTTT... | |
| XM_005268419.2:c.2185-21_2185-20insACAATAAAAGCTATTAATTCGACTTTCTT | XP_005268476.1:n.2185-21_2185-20insACAATAAAAGCTATTAATTCGACTTT... | |
| XM_005268420.3:c.2185-21_2185-20insACAATAAAAGCTATTAATTCGACTTTCTT | XP_005268477.1:n.2185-21_2185-20insACAATAAAAGCTATTAATTCGACTTT... | |
| XM_005268422.2:c.2185-21_2185-20insACAATAAAAGCTATTAATTCGACTTTCTT | XP_005268479.1:n.2185-21_2185-20insACAATAAAAGCTATTAATTCGACTTT... | |
| XM_005268423.2:c.2185-21_2185-20insACAATAAAAGCTATTAATTCGACTTTCTT | XP_005268480.1:n.2185-21_2185-20insACAATAAAAGCTATTAATTCGACTTT... | |
| XM_011537637.1:c.991-21_991-20insACAATAAAAGCTATTAATTCGACTTTCTT | XP_011535939.1:n.991-21_991-20insACAATAAAAGCTATTAATTCGACTTTCT... | |
| XR_944371.1:n.656-2637_656-2636insAGAAAGTCGAATTAATAGCTTTTATTGTA | ||
| NR_157096.1:n.1105-21_1105-20insACAATAAAAGCTATTAATTCGACTTTCTT | ||
| XM_005268419.4:c.2185-21_2185-20insACAATAAAAGCTATTAATTCGACTTTCTT | XP_005268476.1:n.2185-21_2185-20insACAATAAAAGCTATTAATTCGACTTT... | |
| XM_005268420.4:c.2185-21_2185-20insACAATAAAAGCTATTAATTCGACTTTCTT | XP_005268477.1:n.2185-21_2185-20insACAATAAAAGCTATTAATTCGACTTT... | |
| XM_005268422.3:c.2185-21_2185-20insACAATAAAAGCTATTAATTCGACTTTCTT | XP_005268479.1:n.2185-21_2185-20insACAATAAAAGCTATTAATTCGACTTT... | |
| XM_005268423.3:c.2185-21_2185-20insACAATAAAAGCTATTAATTCGACTTTCTT | XP_005268480.1:n.2185-21_2185-20insACAATAAAAGCTATTAATTCGACTTT... | |
| XM_011537637.3:c.991-21_991-20insACAATAAAAGCTATTAATTCGACTTTCTT | XP_011535939.1:n.991-21_991-20insACAATAAAAGCTATTAATTCGACTTTCT... | |
| XM_017009397.1:c.2182-21_2182-20insACAATAAAAGCTATTAATTCGACTTTCTT | XP_016864886.1:n.2182-21_2182-20insACAATAAAAGCTATTAATTCGACTTT... | |
| XM_017009398.1:c.2182-21_2182-20insACAATAAAAGCTATTAATTCGACTTTCTT | XP_016864887.1:n.2182-21_2182-20insACAATAAAAGCTATTAATTCGACTTT... | |
| NM_000176.3:c.2182-21_2182-20insACAATAAAAGCTATTAATTCGACTTTCTT MANE Select | NP_000167.1:n.2182-21_2182-20insACAATAAAAGCTATTAATTCGACTTTCTT... | |
| NM_001364180.1:c.2182-21_2182-20insACAATAAAAGCTATTAATTCGACTTTCTT | NP_001351109.1:n.2182-21_2182-20insACAATAAAAGCTATTAATTCGACTTT... | |
| NM_001364181.1:c.2182-21_2182-20insACAATAAAAGCTATTAATTCGACTTTCTT | NP_001351110.1:n.2182-21_2182-20insACAATAAAAGCTATTAATTCGACTTT... | |
| NM_001364182.1:c.2182-21_2182-20insACAATAAAAGCTATTAATTCGACTTTCTT | NP_001351111.1:n.2182-21_2182-20insACAATAAAAGCTATTAATTCGACTTT... | |
| NM_001364183.1:c.2185-21_2185-20insACAATAAAAGCTATTAATTCGACTTTCTT | NP_001351112.1:n.2185-21_2185-20insACAATAAAAGCTATTAATTCGACTTT... | |
| NM_001364184.1:c.2185-21_2185-20insACAATAAAAGCTATTAATTCGACTTTCTT | NP_001351113.1:n.2185-21_2185-20insACAATAAAAGCTATTAATTCGACTTT... | |
| NM_001364185.1:c.2185-21_2185-20insACAATAAAAGCTATTAATTCGACTTTCTT | NP_001351114.1:n.2185-21_2185-20insACAATAAAAGCTATTAATTCGACTTT... | |
| NM_001018076.2:c.2182-21_2182-20insACAATAAAAGCTATTAATTCGACTTTCTT | NP_001018086.1:n.2182-21_2182-20insACAATAAAAGCTATTAATTCGACTTT... | |
| NM_001020825.2:c.2181+506_2181+507insACAATAAAAGCTATTAATTCGACTTTCTT | NP_001018661.1:n.2181+506_2181+507insACAATAAAAGCTATTAATTCGACT... | |
| NM_001024094.2:c.2185-21_2185-20insACAATAAAAGCTATTAATTCGACTTTCTT | NP_001019265.1:n.2185-21_2185-20insACAATAAAAGCTATTAATTCGACTTT... | |
| NM_001204258.2:c.2104-21_2104-20insACAATAAAAGCTATTAATTCGACTTTCTT | NP_001191187.1:n.2104-21_2104-20insACAATAAAAGCTATTAATTCGACTTT... | |
| NM_001204259.2:c.1927-21_1927-20insACAATAAAAGCTATTAATTCGACTTTCTT | NP_001191188.1:n.1927-21_1927-20insACAATAAAAGCTATTAATTCGACTTT... | |
| NM_001204260.2:c.1915-21_1915-20insACAATAAAAGCTATTAATTCGACTTTCTT | NP_001191189.1:n.1915-21_1915-20insACAATAAAAGCTATTAATTCGACTTT... | |
| NM_001204261.2:c.1891-21_1891-20insACAATAAAAGCTATTAATTCGACTTTCTT | NP_001191190.1:n.1891-21_1891-20insACAATAAAAGCTATTAATTCGACTTT... | |
| NM_001204262.2:c.1237-21_1237-20insACAATAAAAGCTATTAATTCGACTTTCTT | NP_001191191.1:n.1237-21_1237-20insACAATAAAAGCTATTAATTCGACTTT... | |
| NM_001204263.2:c.1192-21_1192-20insACAATAAAAGCTATTAATTCGACTTTCTT | NP_001191192.1:n.1192-21_1192-20insACAATAAAAGCTATTAATTCGACTTT... | |
| NM_001204264.2:c.1177-21_1177-20insACAATAAAAGCTATTAATTCGACTTTCTT | NP_001191193.1:n.1177-21_1177-20insACAATAAAAGCTATTAATTCGACTTT... | |
| NM_001364180.2:c.2182-21_2182-20insACAATAAAAGCTATTAATTCGACTTTCTT | NP_001351109.1:n.2182-21_2182-20insACAATAAAAGCTATTAATTCGACTTT... | |
| NM_001364181.2:c.2182-21_2182-20insACAATAAAAGCTATTAATTCGACTTTCTT | NP_001351110.1:n.2182-21_2182-20insACAATAAAAGCTATTAATTCGACTTT... | |
| NM_001364183.2:c.2185-21_2185-20insACAATAAAAGCTATTAATTCGACTTTCTT | NP_001351112.1:n.2185-21_2185-20insACAATAAAAGCTATTAATTCGACTTT... | |
| NM_001364184.2:c.2185-21_2185-20insACAATAAAAGCTATTAATTCGACTTTCTT | NP_001351113.1:n.2185-21_2185-20insACAATAAAAGCTATTAATTCGACTTT... | |
| NR_157096.2:n.1105-21_1105-20insACAATAAAAGCTATTAATTCGACTTTCTT |