Linked Data
ClinVar Variation Id:
342628
ClinVar RCV Id:
RCV000352161
dbSNP Id:
rs771235886
ExAC:
3:119099737 GTTC / G
gnomAD v2:
3-119099737-GTTC-G
gnomAD v4:
3-119380890-GTTC-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.119380895_119380897del , CM000665.2:g.119380895_119380897del | GRCh38 |
| NC_000003.11:g.119099742_119099744del , CM000665.1:g.119099742_119099744del | GRCh37 |
| NC_000003.10:g.120582432_120582434del | NCBI36 |
| NG_007665.2:g.91523_91525del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264245.9:c.349-9_349-7del MANE Select | ENSP00000264245.4:n.349-9_349-7del | |
| ENST00000264245.8:c.349-9_349-7del | ENSP00000264245.4:n.349-9_349-7del | |
| ENST00000482743.1:c.262-9_262-7del | ENSP00000418429.1:n.262-9_262-7del | |
| NM_020754.3:c.349-9_349-7del | NP_065805.2:n.349-9_349-7del | |
| XM_005247671.3:c.256-9_256-7del | XP_005247728.1:n.256-9_256-7del | |
| XM_006713714.2:c.349-9_349-7del | XP_006713777.1:n.349-9_349-7del | |
| XM_006713714.3:c.349-9_349-7del | XP_006713777.1:n.349-9_349-7del | |
| XM_017006955.1:c.-144-9_-144-7del | XP_016862444.1:n.-144-9_-144-7del | |
| NM_020754.4:c.349-9_349-7del MANE Select | NP_065805.2:n.349-9_349-7del |