Linked Data
dbSNP Id:
rs1420805526
gnomAD v2:
19-55665179-C-CAGCAGAGA
gnomAD v3:
19-55153811-C-CAGCAGAGA
gnomAD v4:
19-55153811-C-CAGCAGAGA
MyVariant Identifiers:
chr19:g.55665179_55665180insAGCAGAGA (hg19)
chr19:g.55153811_55153812insAGCAGAGA (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.55153811_55153812insAGCAGAGA , CM000681.2:g.55153811_55153812insAGCAGAGA | GRCh38 |
| NC_000019.9:g.55665179_55665180insAGCAGAGA , CM000681.1:g.55665179_55665180insAGCAGAGA | GRCh37 |
| NC_000019.8:g.60356991_60356992insAGCAGAGA | NCBI36 |
| NG_007866.2:g.8921_8922insTCTCTGCT , LRG_432:g.8921_8922insTCTCTGCT | |
| NG_011829.2:g.427_428insTCTCTGCT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000344887.10:c.549+218_549+219insTCTCTGCT MANE Select | ENSP00000341838.5:n.549+218_549+219insTCTCTGCT | |
| ENST00000665070.1:c.582+218_582+219insTCTCTGCT | ENSP00000499482.1:n.582+218_582+219insTCTCTGCT | |
| ENST00000344887.9:c.549+218_549+219insTCTCTGCT | ENSP00000341838.5:n.549+218_549+219insTCTCTGCT | |
| ENST00000585806.5:n.548+218_548+219insTCTCTGCT | ||
| ENST00000588882.1:c.474+218_474+219insTCTCTGCT | ENSP00000466729.1:n.474+218_474+219insTCTCTGCT | |
| ENST00000589864.1:n.377+218_377+219insTCTCTGCT | ||
| NM_000363.4:c.549+218_549+219insTCTCTGCT , LRG_432t1:c.549+218_549+219insTCTCTGCT | NP_000354.4:n.549+218_549+219insTCTCTGCT | |
| NM_000363.5:c.549+218_549+219insTCTCTGCT MANE Select | NP_000354.4:n.549+218_549+219insTCTCTGCT |