Linked Data
dbSNP Id:
rs536937993
gnomAD v2:
7-2763366-GGCACCGCGGCT-G
gnomAD v3:
7-2723732-GGCACCGCGGCT-G
gnomAD v4:
7-2723732-GGCACCGCGGCT-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.2723734_2723744del , CM000669.2:g.2723734_2723744del | GRCh38 |
| NC_000007.13:g.2763368_2763378del , CM000669.1:g.2763368_2763378del | GRCh37 |
| NC_000007.12:g.2729894_2729904del | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000489665.1:n.550+13918_550+13928del | ||
| XM_011515151.1:c.778+13918_778+13928del | XP_011513453.1:n.778+13918_778+13928del | |
| NM_001321766.1:c.948+13918_948+13928del | NP_001308695.1:n.948+13918_948+13928del | |
| XM_011515151.3:c.778+13918_778+13928del | XP_011513453.1:n.778+13918_778+13928del | |
| XM_017011774.2:c.778+13918_778+13928del | XP_016867263.1:n.778+13918_778+13928del | |
| NM_001321766.2:c.948+13918_948+13928del | NP_001308695.1:n.948+13918_948+13928del | |
| NM_001384740.1:c.948+13918_948+13928del | NP_001371669.1:n.948+13918_948+13928del | |
| NM_001384741.1:c.779-7287_779-7277del | NP_001371670.1:n.779-7287_779-7277del | |
| NM_001384742.1:c.779-747_779-737del | NP_001371671.1:n.779-747_779-737del |