Linked Data
dbSNP Id:
rs1224933223
gnomAD v2:
19-40791265-G-GCCCCCT
gnomAD v3:
19-40285358-G-GCCCCCT
gnomAD v4:
19-40285358-G-GCCCCCT
MyVariant Identifiers:
chr19:g.40791265_40791266insCCCCCT (hg19)
chr19:g.40285358_40285359insCCCCCT (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.40285364_40285369dup , CM000681.2:g.40285364_40285369dup | GRCh38 |
| NC_000019.9:g.40791271_40791276dup , CM000681.1:g.40791271_40791276dup | GRCh37 |
| NC_000019.8:g.45483111_45483116dup | NCBI36 |
| NG_012038.2:g.4995_5000dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000391844.8:c.-314_-309dup | ENSP00000375719.4:n.-314_-309dup | |
| ENST00000392038.6:c.-268_-263dup | ENSP00000375892.2:n.-268_-263dup | |
| ENST00000424901.5:c.-268_-263dup | ENSP00000399532.2:n.-268_-263dup | |
| ENST00000578123.5:c.-85+84_-85+89dup | ENSP00000462022.1:n.-85+84_-85+89dup | |
| NM_001243027.2:c.-417_-412dup | NP_001229956.1:n.-417_-412dup | |
| NM_001243028.2:c.-324_-319dup | NP_001229957.1:n.-324_-319dup | |
| NM_001626.5:c.-268_-263dup | NP_001617.1:n.-268_-263dup | |
| XM_011526620.1:c.-85+84_-85+89dup | XP_011524922.1:n.-85+84_-85+89dup |