Linked Data
dbSNP Id:
rs1218674157
gnomAD v2:
16-83107471-CATA-C
gnomAD v3:
16-83073866-CATA-C
gnomAD v4:
16-83073866-CATA-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.83073870_83073872del , CM000678.2:g.83073870_83073872del | GRCh38 |
| NC_000016.9:g.83107475_83107477del , CM000678.1:g.83107475_83107477del | GRCh37 |
| NC_000016.8:g.81664976_81664978del | NCBI36 |
| NG_052819.1:g.452077_452079del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000567109.6:c.366+41652_366+41654del MANE Select | ENSP00000479395.1:n.366+41652_366+41654del | |
| ENST00000268613.14:c.507+41652_507+41654del | ENSP00000268613.10:n.507+41652_507+41654del | |
| ENST00000428848.7:c.366+41652_366+41654del | ENSP00000394557.3:n.366+41652_366+41654del | |
| ENST00000431540.7:c.366+41652_366+41654del | ENSP00000408632.3:n.366+41652_366+41654del | |
| ENST00000539548.6:c.158-51515_158-51513del | ENSP00000442225.2:n.158-51515_158-51513del | |
| ENST00000565636.5:c.366+41652_366+41654del | ENSP00000456491.1:n.366+41652_366+41654del | |
| ENST00000566620.5:c.330+41652_330+41654del | ENSP00000454435.3:n.330+41652_330+41654del | |
| ENST00000567109.5:c.366+41652_366+41654del | ENSP00000479395.1:n.366+41652_366+41654del | |
| ENST00000569454.1:n.283+41652_283+41654del | ||
| ENST00000622885.4:c.327+41652_327+41654del | ENSP00000483719.1:n.327+41652_327+41654del | |
| NM_001220488.1:c.507+41652_507+41654del | NP_001207417.1:n.507+41652_507+41654del | |
| NM_001220489.1:c.366+41652_366+41654del | NP_001207418.1:n.366+41652_366+41654del | |
| NM_001220490.1:c.-396-51515_-396-51513del | NP_001207419.1:n.-396-51515_-396-51513del | |
| NM_001220491.1:c.366+41652_366+41654del | NP_001207420.1:n.366+41652_366+41654del | |
| NM_001220492.1:c.366+41652_366+41654del | NP_001207421.1:n.366+41652_366+41654del | |
| NM_001257.4:c.366+41652_366+41654del | NP_001248.1:n.366+41652_366+41654del | |
| XM_011522804.1:c.63+5382_63+5384del | XP_011521106.1:n.63+5382_63+5384del | |
| XM_011522805.1:c.507+41652_507+41654del | XP_011521107.1:n.507+41652_507+41654del | |
| XM_011522804.3:c.63+5382_63+5384del | XP_011521106.1:n.63+5382_63+5384del | |
| XM_017022848.2:c.507+41652_507+41654del | XP_016878337.1:n.507+41652_507+41654del | |
| XM_017022849.2:c.507+41652_507+41654del | XP_016878338.1:n.507+41652_507+41654del | |
| NM_001257.5:c.366+41652_366+41654del MANE Select | NP_001248.1:n.366+41652_366+41654del | |
| NM_001220488.2:c.507+41652_507+41654del | NP_001207417.1:n.507+41652_507+41654del | |
| NM_001220489.2:c.366+41652_366+41654del | NP_001207418.1:n.366+41652_366+41654del | |
| NM_001220490.2:c.-396-51515_-396-51513del | NP_001207419.1:n.-396-51515_-396-51513del | |
| NM_001220491.2:c.366+41652_366+41654del | NP_001207420.1:n.366+41652_366+41654del | |
| NM_001220492.2:c.366+41652_366+41654del | NP_001207421.1:n.366+41652_366+41654del |