Linked Data
dbSNP Id:
rs1221249745
gnomAD v2:
8-87682920-ATGTGAGCCACTGCACCCTGCCAGG-A
gnomAD v3:
8-86670692-ATGTGAGCCACTGCACCCTGCCAGG-A
gnomAD v4:
8-86670692-ATGTGAGCCACTGCACCCTGCCAGG-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.86670710_86670733del , CM000670.2:g.86670710_86670733del | GRCh38 |
| NC_000008.10:g.87682938_87682961del , CM000670.1:g.87682938_87682961del | GRCh37 |
| NC_000008.9:g.87752054_87752077del | NCBI36 |
| NG_016980.1:g.77960_77983del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000320005.6:c.493+228_493+251del MANE Select | ENSP00000316605.5:n.493+228_493+251del | |
| ENST00000680314.1:n.254+228_254+251del | ||
| ENST00000681746.1:c.493+228_493+251del | ENSP00000505959.1:n.493+228_493+251del | |
| ENST00000320005.5:c.493+228_493+251del | ENSP00000316605.5:n.493+228_493+251del | |
| NM_019098.4:c.493+228_493+251del | NP_061971.3:n.493+228_493+251del | |
| XM_011517138.1:c.79+228_79+251del | XP_011515440.1:n.79+228_79+251del | |
| XM_011517138.2:c.79+228_79+251del | XP_011515440.1:n.79+228_79+251del | |
| NM_019098.5:c.493+228_493+251del MANE Select | NP_061971.3:n.493+228_493+251del |