Linked Data
dbSNP Id:
rs557775996
gnomAD v2:
8-118847427-ACTT-A
gnomAD v3:
8-117835188-ACTT-A
gnomAD v4:
8-117835188-ACTT-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.117835195_117835197del , CM000670.2:g.117835195_117835197del | GRCh38 |
| NC_000008.10:g.118847434_118847436del , CM000670.1:g.118847434_118847436del | GRCh37 |
| NC_000008.9:g.118916615_118916617del | NCBI36 |
| NG_007455.2:g.281629_281631del , LRG_493:g.281629_281631del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000684189.1:n.631+253_631+255del | ||
| ENST00000378204.7:c.1164+253_1164+255del MANE Select | ENSP00000367446.3:n.1164+253_1164+255del | |
| ENST00000436216.2:c.532+253_532+255del | ||
| ENST00000378204.6:c.1164+253_1164+255del | ENSP00000367446.2:n.1164+253_1164+255del | |
| ENST00000436216.1:c.532+253_532+255del | ||
| ENST00000437196.1:c.*55+253_*55+255del | ENSP00000407299.1:n.*55+253_*55+255del | |
| NM_000127.2:c.1164+253_1164+255del , LRG_493t1:c.1164+253_1164+255del | NP_000118.2:n.1164+253_1164+255del | |
| NM_000127.3:c.1164+253_1164+255del MANE Select | NP_000118.2:n.1164+253_1164+255del |