Linked Data
dbSNP Id:
rs1553232488
MyVariant Identifiers:
chr1:g.156562647_156562648insAC (hg19)
chr1:g.156592855_156592856insAC (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.156592855_156592856insAC , CM000663.2:g.156592855_156592856insAC | GRCh38 |
| NC_000001.10:g.156562647_156562648insAC , CM000663.1:g.156562647_156562648insAC | GRCh37 |
| NC_000001.9:g.154829271_154829272insAC | NCBI36 |
| NG_052542.1:g.6090_6091insAC |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000368235.8:c.516+185_516+186insAC MANE Select | ENSP00000357218.3:n.516+185_516+186insAC | |
| ENST00000467374.2:n.811_812insAC | ||
| ENST00000679369.1:c.405+185_405+186insAC | ENSP00000505883.1:n.405+185_405+186insAC | |
| ENST00000679649.1:n.555+185_555+186insAC | ||
| ENST00000679702.1:c.516+185_516+186insAC | ENSP00000505913.1:n.516+185_516+186insAC | |
| ENST00000679913.1:n.720+185_720+186insAC | ||
| ENST00000680004.1:c.516+185_516+186insAC | ENSP00000506275.1:n.516+185_516+186insAC | |
| ENST00000680087.1:c.516+185_516+186insAC | ENSP00000505907.1:n.516+185_516+186insAC | |
| ENST00000680269.1:c.516+185_516+186insAC | ENSP00000505899.1:n.516+185_516+186insAC | |
| ENST00000680529.1:n.700+185_700+186insAC | ||
| ENST00000680661.1:c.516+185_516+186insAC | ENSP00000505088.1:n.516+185_516+186insAC | |
| ENST00000681054.1:c.516+185_516+186insAC | ENSP00000506192.1:n.516+185_516+186insAC | |
| ENST00000681523.1:c.516+185_516+186insAC | ENSP00000505349.1:n.516+185_516+186insAC | |
| ENST00000681645.1:n.555+185_555+186insAC | ||
| ENST00000681734.1:c.516+185_516+186insAC | ENSP00000506177.1:n.516+185_516+186insAC | |
| ENST00000681825.1:n.505_506insAC | ||
| ENST00000681922.1:n.740_741insAC | ||
| ENST00000368233.3:c.516+185_516+186insAC | ENSP00000357216.3:n.516+185_516+186insAC | |
| ENST00000368234.7:c.516+185_516+186insAC | ENSP00000357217.3:n.516+185_516+186insAC | |
| ENST00000368235.7:c.516+185_516+186insAC | ENSP00000357218.3:n.516+185_516+186insAC | |
| ENST00000467374.1:n.610_611insAC | ||
| NM_144772.2:c.516+185_516+186insAC | NP_658985.2:n.516+185_516+186insAC | |
| XM_017000319.2:c.516+185_516+186insAC | XP_016855808.1:n.516+185_516+186insAC | |
| NM_144772.3:c.516+185_516+186insAC MANE Select | NP_658985.2:n.516+185_516+186insAC |