Canonical Allele Identifier: CA280996465
Gene:

Linked Data

dbSNP Id: rs386790568

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.49108682_49108683delinsCA , CM000678.2:g.49108682_49108683delinsCA GRCh38
NC_000016.9:g.49142593_49142594delinsCA , CM000678.1:g.49142593_49142594delinsCA GRCh37
NC_000016.8:g.47700094_47700095delinsCA NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_933517.1:n.810+1261_810+1262delinsTG
XR_001752138.2:n.591+5293_591+5294delinsTG
XR_933517.2:n.810+1261_810+1262delinsTG