Linked Data
dbSNP Id:
rs1553335683
gnomAD v2:
1-237971964-A-AAAAC
gnomAD v3:
1-237808664-A-AAAAC
gnomAD v4:
1-237808664-A-AAAAC
MyVariant Identifiers:
chr1:g.237971964_237971965insAAAC (hg19)
chr1:g.237808664_237808665insAAAC (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.237808667_237808668insCAAA , CM000663.2:g.237808667_237808668insCAAA | GRCh38 |
| NC_000001.10:g.237971967_237971968insCAAA , CM000663.1:g.237971967_237971968insCAAA | GRCh37 |
| NC_000001.9:g.236038590_236038591insCAAA | NCBI36 |
| NG_008799.2:g.771266_771267insCAAA | |
| NG_008799.3:g.771484_771485insCAAA |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000609119.2:c.*5391-234_*5391-233insCAAA | ENSP00000499659.2:n.*5391-234_*5391-233insCAAA | |
| ENST00000659194.3:c.14281-234_14281-233insCAAA | ENSP00000499653.3:n.14281-234_14281-233insCAAA | |
| ENST00000660292.2:c.14320-234_14320-233insCAAA | ENSP00000499787.2:n.14320-234_14320-233insCAAA | |
| ENST00000659194.2:c.6470-234_6470-233insCAAA | ||
| ENST00000366574.7:c.14299-234_14299-233insCAAA MANE Select | ENSP00000355533.2:n.14299-234_14299-233insCAAA | |
| ENST00000360064.7:c.14248-234_14248-233insCAAA | ENSP00000353174.7:n.14248-234_14248-233insCAAA | |
| ENST00000366574.6:c.14299-234_14299-233insCAAA | ENSP00000355533.2:n.14299-234_14299-233insCAAA | |
| ENST00000608590.5:n.810-234_810-233insCAAA | ||
| NM_001035.2:c.14299-234_14299-233insCAAA | NP_001026.2:n.14299-234_14299-233insCAAA | |
| XM_006711802.2:c.14353-234_14353-233insCAAA | XP_006711865.1:n.14353-234_14353-233insCAAA | |
| XM_006711803.2:c.14350-234_14350-233insCAAA | XP_006711866.1:n.14350-234_14350-233insCAAA | |
| XM_006711804.2:c.14329-234_14329-233insCAAA | XP_006711867.1:n.14329-234_14329-233insCAAA | |
| XM_006711805.2:c.14323-234_14323-233insCAAA | XP_006711868.1:n.14323-234_14323-233insCAAA | |
| XM_006711806.2:c.14317-234_14317-233insCAAA | XP_006711869.1:n.14317-234_14317-233insCAAA | |
| XM_006711807.2:c.14293-234_14293-233insCAAA | XP_006711870.1:n.14293-234_14293-233insCAAA | |
| XM_006711808.2:c.14116-234_14116-233insCAAA | XP_006711871.1:n.14116-234_14116-233insCAAA | |
| XM_006711810.2:c.14260-234_14260-233insCAAA | XP_006711873.1:n.14260-234_14260-233insCAAA | |
| XM_006711802.3:c.14353-234_14353-233insCAAA | XP_006711865.1:n.14353-234_14353-233insCAAA | |
| XM_006711803.3:c.14350-234_14350-233insCAAA | XP_006711866.1:n.14350-234_14350-233insCAAA | |
| XM_006711804.3:c.14329-234_14329-233insCAAA | XP_006711867.1:n.14329-234_14329-233insCAAA | |
| XM_006711805.3:c.14323-234_14323-233insCAAA | XP_006711868.1:n.14323-234_14323-233insCAAA | |
| XM_006711806.3:c.14317-234_14317-233insCAAA | XP_006711869.1:n.14317-234_14317-233insCAAA | |
| XM_006711807.3:c.14293-234_14293-233insCAAA | XP_006711870.1:n.14293-234_14293-233insCAAA | |
| XM_006711808.3:c.14116-234_14116-233insCAAA | XP_006711871.1:n.14116-234_14116-233insCAAA | |
| XM_006711810.3:c.14260-234_14260-233insCAAA | XP_006711873.1:n.14260-234_14260-233insCAAA | |
| XM_017002028.1:c.14332-234_14332-233insCAAA | XP_016857517.1:n.14332-234_14332-233insCAAA | |
| NM_001035.3:c.14299-234_14299-233insCAAA MANE Select | NP_001026.2:n.14299-234_14299-233insCAAA |