Linked Data
ClinVar Variation Id:
2675547
ClinVar RCV Id:
RCV003468145
dbSNP Id:
rs1408598940
gnomAD v3:
6-35456132-GA-G
gnomAD v4:
6-35456132-GA-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.35456133del , CM000668.2:g.35456133del | GRCh38 |
| NC_000006.11:g.35423910del , CM000668.1:g.35423910del | GRCh37 |
| NC_000006.10:g.35531888del | NCBI36 |
| NG_011708.1:g.8773del , LRG_498:g.8773del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000696264.1:c.635del | ENSP00000512511.1:p.Glu212GlyfsTer? | |
| ENST00000696265.1:c.635del | ENSP00000512512.1:p.Glu212GlyfsTer? | |
| ENST00000696266.1:c.353del | ENSP00000512513.1:p.Glu118GlyfsTer? | |
| ENST00000696267.1:n.275del | ||
| ENST00000229769.3:c.635del MANE Select | ENSP00000229769.2:p.Glu212GlyfsTer? | |
| ENST00000648059.1:c.635del | ENSP00000497902.1:p.Glu212GlyfsTer? | |
| ENST00000229769.2:c.635del | ENSP00000229769.2:p.Glu212GlyfsTer? | |
| NM_021922.2:c.635del , LRG_498t1:c.635del | NP_068741.1:p.Glu212GlyfsTer? | |
| XM_005248885.2:c.635del | XP_005248942.1:p.Glu212GlyfsTer? | |
| XM_005248886.2:c.635del | XP_005248943.1:p.Glu212GlyfsTer? | |
| XM_005248887.2:c.635del | XP_005248944.1:p.Glu212GlyfsTer? | |
| XM_005248888.2:c.635del | XP_005248945.1:p.Glu212GlyfsTer? | |
| XM_011514343.1:c.341del | XP_011512645.1:p.Glu114GlyfsTer? | |
| XM_011514344.1:c.341del | XP_011512646.1:p.Glu114GlyfsTer? | |
| XM_005248888.3:c.635del | XP_005248945.1:p.Glu212GlyfsTer? | |
| XM_011514343.2:c.341del | XP_011512645.1:p.Glu114GlyfsTer? | |
| XR_001743226.1:n.842del | ||
| XR_002956267.1:n.842del | ||
| NM_021922.3:c.635del MANE Select | NP_068741.1:p.Glu212GlyfsTer? |