Linked Data
dbSNP Id:
rs753245303
gnomAD v2:
17-27861052-ACTC-A
gnomAD v3:
17-29534034-ACTC-A
gnomAD v4:
17-29534034-ACTC-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.29534043_29534045del , CM000679.2:g.29534043_29534045del | GRCh38 |
| NC_000017.10:g.27861061_27861063del , CM000679.1:g.27861061_27861063del | GRCh37 |
| NC_000017.9:g.24885187_24885189del | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000261716.8:c.2362-75_2362-73del MANE Select | ENSP00000261716.3:n.2362-75_2362-73del | |
| ENST00000261716.7:c.2362-75_2362-73del | ENSP00000261716.3:n.2362-75_2362-73del | |
| ENST00000536202.1:c.1918-75_1918-73del | ENSP00000438819.1:n.1918-75_1918-73del | |
| NM_020791.2:c.2362-75_2362-73del | NP_065842.1:n.2362-75_2362-73del | |
| NM_025142.1:c.1918-75_1918-73del | NP_079418.1:n.1918-75_1918-73del | |
| XM_011525060.1:c.2362-75_2362-73del | XP_011523362.1:n.2362-75_2362-73del | |
| XM_011525060.2:c.2362-75_2362-73del | XP_011523362.1:n.2362-75_2362-73del | |
| NM_020791.4:c.2362-75_2362-73del MANE Select | NP_065842.1:n.2362-75_2362-73del |