Canonical Allele Identifier: CA2612162300

Gene: HBB

Linked Data

• gnomAD v4: 11-5227089-GC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.5227092del , CM000673.2:g.5227092del	GRCh38
NC_000011.9:g.5248322del , CM000673.1:g.5248322del	GRCh37
NC_000011.8:g.5204898del	NCBI36
NG_000007.3:g.70526del
NG_059281.1:g.4982del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647020.1:c.-69del	ENSP00000494175.1:n.-69del
ENST00000380315.2:c.-18-51del	ENSP00000369671.2:n.-18-51del