Linked Data
dbSNP Id:
rs139106681
gnomAD v2:
5-158748998-GGGC-G
gnomAD v3:
5-159321990-GGGC-G
gnomAD v4:
5-159321990-GGGC-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.159321991_159321993del , CM000667.2:g.159321991_159321993del | GRCh38 |
| NC_000005.9:g.158748999_158749001del , CM000667.1:g.158748999_158749001del | GRCh37 |
| NC_000005.8:g.158681577_158681579del | NCBI36 |
| NG_009618.1:g.13481_13483del , LRG_71:g.13481_13483del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000696750.1:c.-148-1473_-148-1471del | ENSP00000512849.1:n.-148-1473_-148-1471de... | |
| ENST00000696751.1:c.364+1061_364+1063del | ENSP00000512850.1:n.364+1061_364+1063del | |
| ENST00000231228.3:c.482+401_482+403del MANE Select | ENSP00000231228.2:n.482+401_482+403del | |
| ENST00000231228.2:c.482+401_482+403del | ENSP00000231228.2:n.482+401_482+403del | |
| NM_002187.2:c.482+401_482+403del , LRG_71t1:c.482+401_482+403del | NP_002178.2:n.482+401_482+403del | |
| XR_001742945.1:n.147+1395_147+1397del | ||
| NM_002187.3:c.482+401_482+403del MANE Select | NP_002178.2:n.482+401_482+403del |