Linked Data
dbSNP Id:
rs762190866
ExAC:
4:178363546 GACC / G
gnomAD v2:
4-178363546-GACC-G
gnomAD v4:
4-177442392-GACC-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.177442394_177442396del , CM000666.2:g.177442394_177442396del | GRCh38 |
| NC_000004.11:g.178363548_178363550del , CM000666.1:g.178363548_178363550del | GRCh37 |
| NC_000004.10:g.178600542_178600544del | NCBI36 |
| NG_011845.2:g.5109_5111del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000264595.7:c.-20_-18del MANE Select | ENSP00000264595.2:n.-20_-18del | |
| ENST00000264595.6:c.-20_-18del | ENSP00000264595.2:n.-20_-18del | |
| ENST00000506853.5:n.15_17del | ||
| ENST00000510955.5:n.15_17del | ||
| ENST00000511231.1:n.15_17del | ||
| NM_000027.3:c.-20_-18del | NP_000018.2:n.-20_-18del | |
| NM_001171988.1:c.-20_-18del | NP_001165459.1:n.-20_-18del | |
| NR_033655.1:n.109_111del | ||
| XM_006714123.2:c.-20_-18del | XP_006714186.1:n.-20_-18del | |
| XR_001741155.2:n.75_77del | ||
| NM_000027.4:c.-20_-18del MANE Select | NP_000018.2:n.-20_-18del | |
| NM_001171988.2:c.-20_-18del | NP_001165459.1:n.-20_-18del | |
| NR_033655.2:n.43_45del |