Linked Data
dbSNP Id:
rs995974626
gnomAD v2:
20-34026093-GT-G
gnomAD v3:
20-35438313-GT-G
gnomAD v4:
20-35438313-GT-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.35438322del , CM000682.2:g.35438322del | GRCh38 |
| NC_000020.10:g.34026102del , CM000682.1:g.34026102del | GRCh37 |
| NC_000020.9:g.33489516del | NCBI36 |
| NG_008076.2:g.4906del | |
| NG_008076.3:g.21433del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000374372.1:c.-241-145del | ENSP00000363492.1:n.-241-145del | |
| XM_011529075.1:c.-241-145del | XP_011527377.1:n.-241-145del | |
| XM_011529076.1:c.-241-145del | XP_011527378.1:n.-241-145del | |
| NM_001319138.1:c.-241-145del | NP_001306067.1:n.-241-145del | |
| NM_001319138.2:c.-241-145del | NP_001306067.1:n.-241-145del |