Linked Data
dbSNP Id:
rs1600131955
gnomAD v2:
19-40791307-CTGGA-C
gnomAD v3:
19-40285400-CTGGA-C
gnomAD v4:
19-40285400-CTGGA-C
MyVariant Identifiers:
chr19:g.40791308_40791319delinsCGGAAATA (hg19)
chr19:g.40285401_40285412delinsCGGAAATA (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.40285401_40285404del , CM000681.2:g.40285401_40285404del | GRCh38 |
| NC_000019.9:g.40791308_40791311del , CM000681.1:g.40791308_40791311del | GRCh37 |
| NC_000019.8:g.45483148_45483151del | NCBI36 |
| NG_012038.2:g.4955_4958del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000578123.5:c.-85+44_-85+47del | ENSP00000462022.1:n.-85+44_-85+47del | |
| XM_011526620.1:c.-85+44_-85+47del | XP_011524922.1:n.-85+44_-85+47del |