Linked Data
dbSNP Id:
rs1224723069
gnomAD v3:
19-3595698-C-CCGGAG
gnomAD v4:
19-3595698-C-CCGGAG
MyVariant Identifiers:
chr19:g.3595696_3595697insCGGAG (hg19)
chr19:g.3595698_3595699insCGGAG (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.3595701_3595705dup , CM000681.2:g.3595701_3595705dup | GRCh38 |
| NC_000019.9:g.3595699_3595703dup , CM000681.1:g.3595699_3595703dup | GRCh37 |
| NC_000019.8:g.3546699_3546703dup | NCBI36 |
| NG_013363.1:g.16131_16135dup , LRG_578:g.16131_16135dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000375190.10:c.1017_1021dup MANE Select | ENSP00000364336.4:p.Gly341AlafsTer31 | |
| ENST00000375190.8:c.1017_1021dup | ENSP00000364336.3:p.Gly341AlafsTer31 | |
| ENST00000411851.3:c.983+34_983+38dup | ENSP00000393333.2:n.983+34_983+38dup | |
| ENST00000589966.1:c.628_632dup | ENSP00000468145.1:p.Ala212SerfsTer5 | |
| NM_001060.5:c.1017_1021dup , LRG_578t1:c.1017_1021dup | NP_001051.1:p.Gly341AlafsTer31 | |
| NM_201636.2:c.983+34_983+38dup | NP_963998.2:n.983+34_983+38dup | |
| XM_011528214.1:c.1017_1021dup | XP_011526516.1:p.Gly341AlafsTer31 | |
| XM_011528214.2:c.1017_1021dup | XP_011526516.1:p.Gly341AlafsTer31 | |
| NM_001060.6:c.1017_1021dup MANE Select | NP_001051.1:p.Gly341AlafsTer31 | |
| NM_201636.3:c.983+34_983+38dup | NP_963998.2:n.983+34_983+38dup |