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:
rs1438294529
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.63415327_63415328insTGGGTGGGCAGCAAGCTCCCCCGGCTGGCT , CM000682.2:g.63415327_63415328insTGGGTGGGCAGCAAGCTCCCCCGGCTGGCT | GRCh38 |
| NC_000020.10:g.62046680_62046681insTGGGTGGGCAGCAAGCTCCCCCGGCTGGCT , CM000682.1:g.62046680_62046681insTGGGTGGGCAGCAAGCTCCCCCGGCTGGCT | GRCh37 |
| NC_000020.9:g.61517124_61517125insTGGGTGGGCAGCAAGCTCCCCCGGCTGGCT | NCBI36 |
| NG_009004.1:g.62313_62314insAGCCAGCCGGGGGAGCTTGCTGCCCACCCA | |
| NG_009004.2:g.62313_62314insAGCCAGCCGGGGGAGCTTGCTGCCCACCCA |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000706989.1:c.1248-202_1248-201insAGCCAGCCGGGGGAGCTTGCTGCCCACCCA | ENSP00000516702.1:n.1248-202_1248-201insAGCCAGCCGGGGGAGCTTGCT... | |
| ENST00000359125.7:c.1302-202_1302-201insAGCCAGCCGGGGGAGCTTGCTGCCCACCCA MANE Select | ENSP00000352035.2:n.1302-202_1302-201insAGCCAGCCGGGGGAGCTTGCT... | |
| ENST00000637193.1:c.699-202_699-201insAGCCAGCCGGGGGAGCTTGCTGCCCACCCA | ENSP00000490734.1:n.699-202_699-201insAGCCAGCCGGGGGAGCTTGCTGC... | |
| ENST00000637584.1:n.75-238_75-237insAGCCAGCCGGGGGAGCTTGCTGCCCACCCA | ||
| ENST00000344462.8:c.1248-238_1248-237insAGCCAGCCGGGGGAGCTTGCTGCCCACCCA | ENSP00000339611.4:n.1248-238_1248-237insAGCCAGCCGGGGGAGCTTGCT... | |
| ENST00000357249.6:c.906-238_906-237insAGCCAGCCGGGGGAGCTTGCTGCCCACCCA | ENSP00000349789.3:n.906-238_906-237insAGCCAGCCGGGGGAGCTTGCTGC... | |
| ENST00000359125.6:c.1302-202_1302-201insAGCCAGCCGGGGGAGCTTGCTGCCCACCCA | ENSP00000352035.2:n.1302-202_1302-201insAGCCAGCCGGGGGAGCTTGCT... | |
| ENST00000360480.7:c.1218-202_1218-201insAGCCAGCCGGGGGAGCTTGCTGCCCACCCA | ENSP00000353668.3:n.1218-202_1218-201insAGCCAGCCGGGGGAGCTTGCT... | |
| ENST00000370224.5:c.1218-202_1218-201insAGCCAGCCGGGGGAGCTTGCTGCCCACCCA | ENSP00000359244.2:n.1218-202_1218-201insAGCCAGCCGGGGGAGCTTGCT... | |
| ENST00000625514.2:c.1218-238_1218-237insAGCCAGCCGGGGGAGCTTGCTGCCCACCCA | ENSP00000486040.1:n.1218-238_1218-237insAGCCAGCCGGGGGAGCTTGCT... | |
| ENST00000626839.2:c.1248-202_1248-201insAGCCAGCCGGGGGAGCTTGCTGCCCACCCA | ENSP00000486706.1:n.1248-202_1248-201insAGCCAGCCGGGGGAGCTTGCT... | |
| ENST00000627221.2:c.362-202_362-201insAGCCAGCCGGGGGAGCTTGCTGCCCACCCA | ||
| ENST00000629241.2:c.1218-202_1218-201insAGCCAGCCGGGGGAGCTTGCTGCCCACCCA | ENSP00000487142.1:n.1218-202_1218-201insAGCCAGCCGGGGGAGCTTGCT... | |
| ENST00000629676.2:c.1218-202_1218-201insAGCCAGCCGGGGGAGCTTGCTGCCCACCCA | ENSP00000486194.1:n.1218-202_1218-201insAGCCAGCCGGGGGAGCTTGCT... | |
| NM_004518.4:c.1218-202_1218-201insAGCCAGCCGGGGGAGCTTGCTGCCCACCCA | NP_004509.2:n.1218-202_1218-201insAGCCAGCCGGGGGAGCTTGCTGCCCAC... | |
| NM_172106.1:c.1248-202_1248-201insAGCCAGCCGGGGGAGCTTGCTGCCCACCCA | NP_742104.1:n.1248-202_1248-201insAGCCAGCCGGGGGAGCTTGCTGCCCAC... | |
| NM_172107.2:c.1302-202_1302-201insAGCCAGCCGGGGGAGCTTGCTGCCCACCCA | NP_742105.1:n.1302-202_1302-201insAGCCAGCCGGGGGAGCTTGCTGCCCAC... | |
| NM_172108.3:c.1248-238_1248-237insAGCCAGCCGGGGGAGCTTGCTGCCCACCCA | NP_742106.1:n.1248-238_1248-237insAGCCAGCCGGGGGAGCTTGCTGCCCAC... | |
| XM_006723787.1:c.1302-202_1302-201insAGCCAGCCGGGGGAGCTTGCTGCCCACCCA | XP_006723850.1:n.1302-202_1302-201insAGCCAGCCGGGGGAGCTTGCTGCC... | |
| XM_011528807.1:c.1302-202_1302-201insAGCCAGCCGGGGGAGCTTGCTGCCCACCCA | XP_011527109.1:n.1302-202_1302-201insAGCCAGCCGGGGGAGCTTGCTGCC... | |
| XM_011528808.1:c.1302-202_1302-201insAGCCAGCCGGGGGAGCTTGCTGCCCACCCA | XP_011527110.1:n.1302-202_1302-201insAGCCAGCCGGGGGAGCTTGCTGCC... | |
| XM_011528809.1:c.1272-202_1272-201insAGCCAGCCGGGGGAGCTTGCTGCCCACCCA | XP_011527111.1:n.1272-202_1272-201insAGCCAGCCGGGGGAGCTTGCTGCC... | |
| XM_011528810.1:c.1248-202_1248-201insAGCCAGCCGGGGGAGCTTGCTGCCCACCCA | XP_011527112.1:n.1248-202_1248-201insAGCCAGCCGGGGGAGCTTGCTGCC... | |
| XM_011528811.1:c.1218-202_1218-201insAGCCAGCCGGGGGAGCTTGCTGCCCACCCA | XP_011527113.1:n.1218-202_1218-201insAGCCAGCCGGGGGAGCTTGCTGCC... | |
| XM_011528812.1:c.1302-202_1302-201insAGCCAGCCGGGGGAGCTTGCTGCCCACCCA | XP_011527114.1:n.1302-202_1302-201insAGCCAGCCGGGGGAGCTTGCTGCC... | |
| XM_011528813.1:c.1176-202_1176-201insAGCCAGCCGGGGGAGCTTGCTGCCCACCCA | XP_011527115.1:n.1176-202_1176-201insAGCCAGCCGGGGGAGCTTGCTGCC... | |
| XM_011528814.1:c.783-202_783-201insAGCCAGCCGGGGGAGCTTGCTGCCCACCCA | XP_011527116.1:n.783-202_783-201insAGCCAGCCGGGGGAGCTTGCTGCCCA... | |
| XM_011528815.1:c.1302-202_1302-201insAGCCAGCCGGGGGAGCTTGCTGCCCACCCA | XP_011527117.1:n.1302-202_1302-201insAGCCAGCCGGGGGAGCTTGCTGCC... | |
| NM_004518.5:c.1218-202_1218-201insAGCCAGCCGGGGGAGCTTGCTGCCCACCCA | NP_004509.2:n.1218-202_1218-201insAGCCAGCCGGGGGAGCTTGCTGCCCAC... | |
| NM_172106.2:c.1248-202_1248-201insAGCCAGCCGGGGGAGCTTGCTGCCCACCCA | NP_742104.1:n.1248-202_1248-201insAGCCAGCCGGGGGAGCTTGCTGCCCAC... | |
| NM_172107.3:c.1302-202_1302-201insAGCCAGCCGGGGGAGCTTGCTGCCCACCCA | NP_742105.1:n.1302-202_1302-201insAGCCAGCCGGGGGAGCTTGCTGCCCAC... | |
| NM_172108.4:c.1248-238_1248-237insAGCCAGCCGGGGGAGCTTGCTGCCCACCCA | NP_742106.1:n.1248-238_1248-237insAGCCAGCCGGGGGAGCTTGCTGCCCAC... | |
| XM_011528810.2:c.1248-202_1248-201insAGCCAGCCGGGGGAGCTTGCTGCCCACCCA | XP_011527112.1:n.1248-202_1248-201insAGCCAGCCGGGGGAGCTTGCTGCC... | |
| XM_011528811.2:c.1218-202_1218-201insAGCCAGCCGGGGGAGCTTGCTGCCCACCCA | XP_011527113.1:n.1218-202_1218-201insAGCCAGCCGGGGGAGCTTGCTGCC... | |
| XM_017027841.2:c.1248-202_1248-201insAGCCAGCCGGGGGAGCTTGCTGCCCACCCA | XP_016883330.1:n.1248-202_1248-201insAGCCAGCCGGGGGAGCTTGCTGCC... | |
| XM_017027842.2:c.1248-202_1248-201insAGCCAGCCGGGGGAGCTTGCTGCCCACCCA | XP_016883331.1:n.1248-202_1248-201insAGCCAGCCGGGGGAGCTTGCTGCC... | |
| XM_017027843.1:c.1179-202_1179-201insAGCCAGCCGGGGGAGCTTGCTGCCCACCCA | XP_016883332.1:n.1179-202_1179-201insAGCCAGCCGGGGGAGCTTGCTGCC... | |
| XM_017027844.2:c.1248-202_1248-201insAGCCAGCCGGGGGAGCTTGCTGCCCACCCA | XP_016883333.1:n.1248-202_1248-201insAGCCAGCCGGGGGAGCTTGCTGCC... | |
| XM_017027845.1:c.210-202_210-201insAGCCAGCCGGGGGAGCTTGCTGCCCACCCA | XP_016883334.1:n.210-202_210-201insAGCCAGCCGGGGGAGCTTGCTGCCCA... | |
| NM_004518.6:c.1218-202_1218-201insAGCCAGCCGGGGGAGCTTGCTGCCCACCCA | NP_004509.2:n.1218-202_1218-201insAGCCAGCCGGGGGAGCTTGCTGCCCAC... | |
| NM_172106.3:c.1248-202_1248-201insAGCCAGCCGGGGGAGCTTGCTGCCCACCCA | NP_742104.1:n.1248-202_1248-201insAGCCAGCCGGGGGAGCTTGCTGCCCAC... | |
| NM_172107.4:c.1302-202_1302-201insAGCCAGCCGGGGGAGCTTGCTGCCCACCCA MANE Select | NP_742105.1:n.1302-202_1302-201insAGCCAGCCGGGGGAGCTTGCTGCCCAC... | |
| NM_172108.5:c.1248-238_1248-237insAGCCAGCCGGGGGAGCTTGCTGCCCACCCA | NP_742106.1:n.1248-238_1248-237insAGCCAGCCGGGGGAGCTTGCTGCCCAC... | |
| NM_001382235.1:c.1248-202_1248-201insAGCCAGCCGGGGGAGCTTGCTGCCCACCCA | NP_001369164.1:n.1248-202_1248-201insAGCCAGCCGGGGGAGCTTGCTGCC... |