Linked Data
dbSNP Id:
rs752228857
ExAC:
16:56368620 CCT / C
gnomAD v2:
16-56368620-CCT-C
gnomAD v4:
16-56334708-CCT-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.56334709_56334710del , CM000678.2:g.56334709_56334710del | GRCh38 |
| NC_000016.9:g.56368621_56368622del , CM000678.1:g.56368621_56368622del | GRCh37 |
| NC_000016.8:g.54926122_54926123del | NCBI36 |
| NG_042800.1:g.148371_148372del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262494.13:c.465-20_465-19del | ENSP00000262494.7:n.465-20_465-19del | |
| ENST00000262493.12:c.465-20_465-19del MANE Select | ENSP00000262493.6:n.465-20_465-19del | |
| ENST00000262494.12:c.465-20_465-19del | ENSP00000262494.7:n.465-20_465-19del | |
| ENST00000562316.6:c.132-20_132-19del | ENSP00000457238.2:n.132-20_132-19del | |
| ENST00000638185.1:n.680-20_680-19del | ||
| ENST00000638210.1:n.765-20_765-19del | ||
| ENST00000638705.1:c.465-20_465-19del | ENSP00000491223.1:n.465-20_465-19del | |
| ENST00000638836.1:n.375-20_375-19del | ||
| ENST00000639055.1:n.1186-20_1186-19del | ||
| ENST00000639251.1:n.366-20_366-19del | ||
| ENST00000639268.1:c.229-2022_229-2021del | ||
| ENST00000639770.1:c.503-20_503-19del | ENSP00000491999.1:n.503-20_503-19del | |
| ENST00000640390.1:n.395-20_395-19del | ||
| ENST00000640893.1:c.304-20_304-19del | ENSP00000492677.1:n.304-20_304-19del | |
| ENST00000262493.10:c.465-20_465-19del | ENSP00000262493.6:n.465-20_465-19del | |
| ENST00000262494.11:c.465-20_465-19del | ENSP00000262494.7:n.465-20_465-19del | |
| ENST00000562316.5:c.204-20_204-19del | ENSP00000457238.1:n.204-20_204-19del | |
| ENST00000563440.1:c.204-20_204-19del | ENSP00000455774.1:n.204-20_204-19del | |
| ENST00000565363.5:c.339-20_339-19del | ENSP00000454728.1:n.339-20_339-19del | |
| NM_020988.2:c.465-20_465-19del | NP_066268.1:n.465-20_465-19del | |
| NM_138736.2:c.465-20_465-19del | NP_620073.2:n.465-20_465-19del | |
| XM_011523003.1:c.339-20_339-19del | XP_011521305.1:n.339-20_339-19del | |
| XM_011523003.3:c.339-20_339-19del | XP_011521305.1:n.339-20_339-19del | |
| NM_020988.3:c.465-20_465-19del MANE Select | NP_066268.1:n.465-20_465-19del | |
| NM_138736.3:c.465-20_465-19del | NP_620073.2:n.465-20_465-19del |