Linked Data
dbSNP Id:
rs1423270609
gnomAD v3:
19-6681867-G-GGAAAA
gnomAD v4:
19-6681867-G-GGAAAA
MyVariant Identifiers:
chr19:g.6681878_6681879insGAAAA (hg19)
chr19:g.6681867_6681868insGAAAA (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.6681872_6681876dup , CM000681.2:g.6681872_6681876dup | GRCh38 |
| NC_000019.9:g.6681883_6681887dup , CM000681.1:g.6681883_6681887dup | GRCh37 |
| NC_000019.8:g.6632883_6632887dup | NCBI36 |
| NG_009557.1:g.43780_43784dup , LRG_27:g.43780_43784dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000695651.1:n.2698+69_2698+73dup | ||
| ENST00000695653.1:c.2259+69_2259+73dup | ENSP00000512084.1:n.2259+69_2259+73dup | |
| ENST00000695654.1:c.3375+69_3375+73dup | ENSP00000512085.1:n.3375+69_3375+73dup | |
| ENST00000695689.1:c.321+69_321+73dup | ENSP00000512101.1:n.321+69_321+73dup | |
| ENST00000695690.1:n.610_614dup | ||
| ENST00000695691.1:n.610_614dup | ||
| ENST00000245907.11:c.4350+69_4350+73dup MANE Select | ENSP00000245907.4:n.4350+69_4350+73dup | |
| ENST00000245907.10:c.4350+69_4350+73dup | ENSP00000245907.4:n.4350+69_4350+73dup | |
| ENST00000596548.1:c.471+69_471+73dup | ENSP00000469744.1:n.471+69_471+73dup | |
| ENST00000599899.5:n.1309+69_1309+73dup | ||
| ENST00000601008.1:c.242-3914_242-3910dup | ENSP00000471384.1:n.242-3914_242-3910dup | |
| NM_000064.3:c.4350+69_4350+73dup | NP_000055.2:n.4350+69_4350+73dup | |
| NM_000064.4:c.4350+69_4350+73dup MANE Select | NP_000055.2:n.4350+69_4350+73dup |