Linked Data
dbSNP Id:
rs772091488
gnomAD v2:
13-48923115-C-CCCACAGAATAGT
MyVariant Identifiers:
chr13:g.48923115_48923116insCCACAGAATAGT (hg19)
chr13:g.48348979_48348980insCCACAGAATAGT (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.48348979_48348980insCCACAGAATAGT , CM000675.2:g.48348979_48348980insCCACAGAATAGT | GRCh38 |
| NC_000013.10:g.48923115_48923116insCCACAGAATAGT , CM000675.1:g.48923115_48923116insCCACAGAATAGT | GRCh37 |
| NC_000013.9:g.47821116_47821117insCCACAGAATAGT | NCBI36 |
| NG_009009.1:g.50233_50234insCCACAGAATAGT , LRG_517:g.50233_50234insCCACAGAATAGT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000267163.6:c.563_564insCCACAGAATAGT MANE Select | ENSP00000267163.4:p.Ala188_Leu189insHisArgIleVal | |
| ENST00000650461.1:c.563_564insCCACAGAATAGT | ENSP00000497193.1:p.Ala188_Leu189insHisArgIleVal | |
| ENST00000267163.4:c.563_564insCCACAGAATAGT | ENSP00000267163.4:p.Ala188_Leu189insHisArgIleVal | |
| ENST00000467505.5:c.138-11038_138-11037insCCACAGAATAGT | ENSP00000434702.1:n.138-11038_138-11037insCCACAGAATAGT | |
| ENST00000525036.1:n.725_726insCCACAGAATAGT | ||
| NM_000321.2:c.563_564insCCACAGAATAGT , LRG_517t1:c.563_564insCCACAGAATAGT | NP_000312.2:p.Ala188_Leu189insHisArgIleVal | |
| XM_011535171.1:c.302_303insCCACAGAATAGT | XP_011533473.1:p.Ala101_Leu102insHisArgIleVal | |
| XM_011535171.2:c.302_303insCCACAGAATAGT | XP_011533473.1:p.Ala101_Leu102insHisArgIleVal | |
| NM_000321.3:c.563_564insCCACAGAATAGT MANE Select | NP_000312.2:p.Ala188_Leu189insHisArgIleVal |