Linked Data
dbSNP Id:
rs767138804
ExAC:
16:56368590 AAC / A
gnomAD v2:
16-56368590-AAC-A
gnomAD v3:
16-56334678-AAC-A
gnomAD v4:
16-56334678-AAC-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.56334680_56334681del , CM000678.2:g.56334680_56334681del | GRCh38 |
| NC_000016.9:g.56368592_56368593del , CM000678.1:g.56368592_56368593del | GRCh37 |
| NC_000016.8:g.54926093_54926094del | NCBI36 |
| NG_042800.1:g.148342_148343del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262494.13:c.465-49_465-48del | ENSP00000262494.7:n.465-49_465-48del | |
| ENST00000262493.12:c.465-49_465-48del MANE Select | ENSP00000262493.6:n.465-49_465-48del | |
| ENST00000262494.12:c.465-49_465-48del | ENSP00000262494.7:n.465-49_465-48del | |
| ENST00000562316.6:c.132-49_132-48del | ENSP00000457238.2:n.132-49_132-48del | |
| ENST00000638185.1:n.680-49_680-48del | ||
| ENST00000638210.1:n.765-49_765-48del | ||
| ENST00000638705.1:c.465-49_465-48del | ENSP00000491223.1:n.465-49_465-48del | |
| ENST00000638836.1:n.375-49_375-48del | ||
| ENST00000639055.1:n.1186-49_1186-48del | ||
| ENST00000639251.1:n.366-49_366-48del | ||
| ENST00000639268.1:c.229-2051_229-2050del | ||
| ENST00000639770.1:c.503-49_503-48del | ENSP00000491999.1:n.503-49_503-48del | |
| ENST00000640390.1:n.395-49_395-48del | ||
| ENST00000640893.1:c.304-49_304-48del | ENSP00000492677.1:n.304-49_304-48del | |
| ENST00000262493.10:c.465-49_465-48del | ENSP00000262493.6:n.465-49_465-48del | |
| ENST00000262494.11:c.465-49_465-48del | ENSP00000262494.7:n.465-49_465-48del | |
| ENST00000562316.5:c.204-49_204-48del | ENSP00000457238.1:n.204-49_204-48del | |
| ENST00000563440.1:c.204-49_204-48del | ENSP00000455774.1:n.204-49_204-48del | |
| ENST00000565363.5:c.339-49_339-48del | ENSP00000454728.1:n.339-49_339-48del | |
| NM_020988.2:c.465-49_465-48del | NP_066268.1:n.465-49_465-48del | |
| NM_138736.2:c.465-49_465-48del | NP_620073.2:n.465-49_465-48del | |
| XM_011523003.1:c.339-49_339-48del | XP_011521305.1:n.339-49_339-48del | |
| XM_011523003.3:c.339-49_339-48del | XP_011521305.1:n.339-49_339-48del | |
| NM_020988.3:c.465-49_465-48del MANE Select | NP_066268.1:n.465-49_465-48del | |
| NM_138736.3:c.465-49_465-48del | NP_620073.2:n.465-49_465-48del |