Linked Data
dbSNP Id:
rs111490499
gnomAD v2:
10-82034172-TGA-T
gnomAD v3:
10-80274416-TGA-T
gnomAD v4:
10-80274416-TGA-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.80274420_80274421del , CM000672.2:g.80274420_80274421del | GRCh38 |
| NC_000010.10:g.82034176_82034177del , CM000672.1:g.82034176_82034177del | GRCh37 |
| NC_000010.9:g.82024156_82024157del | NCBI36 |
| NG_008083.1:g.20261_20262del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000372213.8:c.1085+102_1085+103del MANE Select | ENSP00000361287.3:n.1085+102_1085+103del | |
| ENST00000372213.7:c.1085+102_1085+103del | ENSP00000361287.3:n.1085+102_1085+103del | |
| ENST00000480845.1:n.317+102_317+103del | ||
| ENST00000485270.5:n.597+102_597+103del | ||
| NM_000429.2:c.1085+102_1085+103del | NP_000420.1:n.1085+102_1085+103del | |
| XM_005269842.3:c.1085+102_1085+103del | XP_005269899.1:n.1085+102_1085+103del | |
| XM_005269843.3:c.962+102_962+103del | XP_005269900.1:n.962+102_962+103del | |
| NM_000429.3:c.1085+102_1085+103del MANE Select | NP_000420.1:n.1085+102_1085+103del |