Linked Data
dbSNP Id:
rs2017600289
gnomAD v3:
2-165271411-ACTCGATG-A
gnomAD v4:
2-165271411-ACTCGATG-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.165271412_165271418del , CM000664.2:g.165271412_165271418del | GRCh38 |
| NC_000002.11:g.166127922_166127928del , CM000664.1:g.166127922_166127928del | GRCh37 |
| NC_000002.10:g.165836168_165836174del | NCBI36 |
| NG_008143.1:g.37011_37017del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000631182.3:c.-51-24361_-51-24355del MANE Plus Clinical | ENSP00000486885.1:n.-51-24361_-51-24355de... | |
| ENST00000375437.7:c.-51-24361_-51-24355del MANE Select | ENSP00000364586.2:n.-51-24361_-51-24355de... | |
| ENST00000635945.1:n.313-24361_313-24355del | ||
| ENST00000636071.2:c.-51-24361_-51-24355del | ENSP00000490107.1:n.-51-24361_-51-24355de... | |
| ENST00000636135.1:c.-207-19218_-207-19212del | ENSP00000489821.1:n.-207-19218_-207-19212... | |
| ENST00000636384.2:c.-51-24361_-51-24355del | ENSP00000490765.1:n.-51-24361_-51-24355de... | |
| ENST00000636985.2:c.-552-24468_-552-24462del | ENSP00000490849.1:n.-552-24468_-552-24462... | |
| ENST00000637266.2:c.-51-24361_-51-24355del | ENSP00000490866.1:n.-51-24361_-51-24355de... | |
| ENST00000637367.1:c.-51-24361_-51-24355del | ENSP00000490592.1:n.-51-24361_-51-24355de... | |
| ENST00000638151.1:n.141-24468_141-24462del | ||
| ENST00000640791.1:n.5243_5249del | ||
| ENST00000375437.6:c.-51-24361_-51-24355del | ENSP00000364586.2:n.-51-24361_-51-24355de... | |
| ENST00000424833.5:c.-51-24361_-51-24355del | ENSP00000406454.2:n.-51-24361_-51-24355de... | |
| ENST00000631182.2:c.-51-24361_-51-24355del | ENSP00000486885.1:n.-51-24361_-51-24355de... | |
| NM_001040142.1:c.-51-24361_-51-24355del | NP_001035232.1:n.-51-24361_-51-24355del | |
| XM_005246750.2:c.-51-24361_-51-24355del | XP_005246807.1:n.-51-24361_-51-24355del | |
| XM_005246753.2:c.-51-24361_-51-24355del | XP_005246810.1:n.-51-24361_-51-24355del | |
| XM_005246754.3:c.27-24468_27-24462del | XP_005246811.1:n.27-24468_27-24462del | |
| XM_011511608.1:c.-51-24361_-51-24355del | XP_011509910.1:n.-51-24361_-51-24355del | |
| XM_011511609.1:c.-51-24361_-51-24355del | XP_011509911.1:n.-51-24361_-51-24355del | |
| XM_005246753.3:c.-51-24361_-51-24355del | XP_005246810.1:n.-51-24361_-51-24355del | |
| XM_017004656.1:c.-51-24361_-51-24355del | XP_016860145.1:n.-51-24361_-51-24355del | |
| XM_017004658.1:c.-991-24361_-991-24355del | XP_016860147.1:n.-991-24361_-991-24355del... | |
| XM_024453037.1:c.-712-24361_-712-24355del | XP_024308805.1:n.-712-24361_-712-24355del... | |
| NM_001040142.2:c.-51-24361_-51-24355del MANE Select | NP_001035232.1:n.-51-24361_-51-24355del | |
| NM_001040143.2:c.-51-24361_-51-24355del | NP_001035233.1:n.-51-24361_-51-24355del | |
| NM_001371246.1:c.-51-24361_-51-24355del MANE Plus Clinical | NP_001358175.1:n.-51-24361_-51-24355del | |
| NM_001371247.1:c.-51-24361_-51-24355del | NP_001358176.1:n.-51-24361_-51-24355del |