Canonical Allele Identifier: CA1949571336
Gene: HBB HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.5227027_5227031delinsCTGTT , CM000673.2:g.5227027_5227031delinsCTGTT GRCh38
NC_000011.9:g.5248257_5248261delinsCTGTT , CM000673.1:g.5248257_5248261delinsCTGTT GRCh37
NC_000011.8:g.5204833_5204837delinsCTGTT NCBI36
NG_000007.3:g.70585_70589delinsAACAG
NG_059281.1:g.5041_5045delinsAACAG

Transcript Alleles

HGVS Amino-acid Change
ENST00000647020.1:c.-10_-6delinsAACAG ENSP00000494175.1:n.-10_-6delinsAACAG
ENST00000335295.4:c.-10_-6delinsAACAG MANE Select ENSP00000333994.3:n.-10_-6delinsAACAG
ENST00000380315.2:c.-10_-6delinsAACAG ENSP00000369671.2:n.-10_-6delinsAACAG
ENST00000485743.1:n.42_46delinsAACAG
ENST00000633227.1:c.-10_-6delinsAACAG ENSP00000488004.1:n.-10_-6delinsAACAG
NM_000518.4:c.-10_-6delinsAACAG NP_000509.1:n.-10_-6delinsAACAG
NM_000518.5:c.-10_-6delinsAACAG MANE Select NP_000509.1:n.-10_-6delinsAACAG