Linked Data
dbSNP Id:
rs762401579
ExAC:
17:40723649 CAA / C
gnomAD v2:
17-40723649-CAA-C
gnomAD v3:
17-42571631-CAA-C
gnomAD v4:
17-42571631-CAA-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.42571632_42571633del , CM000679.2:g.42571632_42571633del | GRCh38 |
| NC_000017.10:g.40723650_40723651del , CM000679.1:g.40723650_40723651del | GRCh37 |
| NC_000017.9:g.37977176_37977177del | NCBI36 |
| NG_029442.1:g.9573_9574del | |
| NG_031960.1:g.11199_11200del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000435881.7:c.*29_*30del MANE Select | ENSP00000416627.1:n.*29_*30del | |
| ENST00000246912.8:c.*29_*30del | ENSP00000246912.3:n.*29_*30del | |
| ENST00000346833.8:c.*29_*30del | ENSP00000320913.3:n.*29_*30del | |
| ENST00000435881.6:c.*29_*30del | ENSP00000416627.1:n.*29_*30del | |
| ENST00000585403.5:n.971_972del | ||
| ENST00000588320.1:n.1240_1241del | ||
| ENST00000590050.5:n.930_931del | ||
| NM_170607.2:c.*29_*30del | NP_733752.1:n.*29_*30del | |
| NM_198204.1:c.*29_*30del | NP_937847.1:n.*29_*30del | |
| NM_198205.1:c.*29_*30del | NP_937848.1:n.*29_*30del | |
| NM_198204.2:c.*29_*30del MANE Select | NP_937847.1:n.*29_*30del | |
| NM_170607.3:c.*29_*30del | NP_733752.1:n.*29_*30del | |
| NM_198205.2:c.*29_*30del | NP_937848.1:n.*29_*30del |