Linked Data
ClinVar Variation Id:
189294
ClinVar RCV Id:
RCV000169728
dbSNP Id:
rs786204825
PubMed:
PMID:23355523
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.50908811del , CM000681.2:g.50908811del | GRCh38 |
| NC_000019.9:g.51412067del , CM000681.1:g.51412067del | GRCh37 |
| NC_000019.8:g.56103879del | NCBI36 |
| NG_012154.2:g.6930del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000324041.6:c.245del MANE Select | ENSP00000326159.1:p.Gly82AlafsTer? | |
| ENST00000324041.5:c.245del | ENSP00000326159.1:p.Gly82AlafsTer? | |
| ENST00000431178.2:c.98del | ENSP00000399448.2:p.Gly33AlafsTer? | |
| ENST00000593885.1:c.-41del | ENSP00000469769.1:n.-41del | |
| ENST00000596876.1:n.164del | ||
| ENST00000598305.5:c.-41del | ENSP00000469963.1:n.-41del | |
| ENST00000599865.5:n.98del | ||
| ENST00000602148.1:c.257del | ENSP00000472091.1:n.257del | |
| NM_001302961.1:c.-41del | NP_001289890.1:n.-41del | |
| NM_004917.4:c.245del | NP_004908.4:p.Gly82AlafsTer? | |
| NR_126566.1:n.238del | ||
| XM_005259441.3:c.-41del | XP_005259498.2:n.-41del | |
| XM_011527545.1:c.245del | XP_011525847.1:p.Gly82AlafsTer? | |
| XM_011527546.1:c.245del | XP_011525848.1:p.Gly82AlafsTer? | |
| XM_011527547.1:c.98del | XP_011525849.1:p.Gly33AlafsTer? | |
| XM_005259441.4:c.-41del | XP_005259498.2:n.-41del | |
| XM_011527545.3:c.245del | XP_011525847.1:p.Gly82AlafsTer? | |
| XM_011527546.2:c.245del | XP_011525848.1:p.Gly82AlafsTer? | |
| NM_001302961.2:c.-41del | NP_001289890.1:n.-41del | |
| NR_126566.2:n.238del | ||
| NM_004917.5:c.245del MANE Select | NP_004908.4:p.Gly82AlafsTer? |