Canonical Allele Identifier: CA12921798
Gene: BLK HGNC NCBI
COSMIC:
gnomAD v4:

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.11491677G>A , CM000670.2:g.11491677G>A GRCh38
NC_000008.10:g.11349186G>A , CM000670.1:g.11349186G>A GRCh37
NC_000008.9:g.11386595G>A NCBI36
NG_023543.1:g.2666G>A
NG_023543.2:g.2666G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000696154.2:n.274+4510G>A
ENST00000696154.1:c.-91+4510G>A ENSP00000512445.1:n.-91+4510G>A
ENST00000645242.1:c.-91+4510G>A ENSP00000494690.1:n.-91+4510G>A