Linked Data
dbSNP Id:
rs1165483715
gnomAD v2:
6-151936835-GA-G
gnomAD v3:
6-151615700-GA-G
gnomAD v4:
6-151615700-GA-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.151615703del , CM000668.2:g.151615703del | GRCh38 |
| NC_000006.11:g.151936838del , CM000668.1:g.151936838del | GRCh37 |
| NC_000006.10:g.151978531del | NCBI36 |
| NG_021198.1:g.126664del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000239374.8:c.1947+24del MANE Select | ENSP00000239374.6:n.1947+24del | |
| ENST00000239374.7:c.1947+24del | ENSP00000239374.6:n.1947+24del | |
| NM_025059.3:c.1947+24del | NP_079335.2:n.1947+24del | |
| XM_011536147.1:c.1965+24del | XP_011534449.1:n.1965+24del | |
| XM_011536148.1:c.1764+24del | XP_011534450.1:n.1764+24del | |
| XM_011536147.2:c.1965+24del | XP_011534449.1:n.1965+24del | |
| XM_011536148.2:c.1764+24del | XP_011534450.1:n.1764+24del | |
| XR_001743865.1:n.129+1020del | ||
| NM_025059.4:c.1947+24del MANE Select | NP_079335.2:n.1947+24del |