Canonical Allele Identifier: CA1949571542
Gene: HBB HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.5227096_5227098delinsCTT , CM000673.2:g.5227096_5227098delinsCTT GRCh38
NC_000011.9:g.5248326_5248328delinsCTT , CM000673.1:g.5248326_5248328delinsCTT GRCh37
NC_000011.8:g.5204902_5204904delinsCTT NCBI36
NG_000007.3:g.70518_70520delinsAAG
NG_059281.1:g.4974_4976delinsAAG

Transcript Alleles

HGVS Amino-acid Change
ENST00000647020.1:c.-77_-75delinsAAG ENSP00000494175.1:n.-77_-75delinsAAG
ENST00000380315.2:c.-18-59_-18-57delinsAAG ENSP00000369671.2:n.-18-59_-18-57delinsAAG