Canonical Allele Identifier: CA2612161236

Gene: HBB

Linked Data

• dbSNP Id: rs754867195
• gnomAD v4: 11-5225727-C-CCTGAAGTTCTCAGGATCCACGTGCAGCTTGTCACAG

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.5225727_5225728insCTGAAGTTCTCAGGATCCACGTGCAGCTTGTCACAG , CM000673.2:g.5225727_5225728insCTGAAGTTCTCAGGATCCACGTGCAGCTTGTCACAG	GRCh38
NC_000011.9:g.5246957_5246958insCTGAAGTTCTCAGGATCCACGTGCAGCTTGTCACAG , CM000673.1:g.5246957_5246958insCTGAAGTTCTCAGGATCCACGTGCAGCTTGTCACAG	GRCh37
NC_000011.8:g.5203533_5203534insCTGAAGTTCTCAGGATCCACGTGCAGCTTGTCACAG	NCBI36
NG_000007.3:g.71888_71889insCTGTGACAAGCTGCACGTGGATCCTGAGAACTTCAG
NG_059281.1:g.6344_6345insCTGTGACAAGCTGCACGTGGATCCTGAGAACTTCAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647020.1:c.316-2_316-1insCTGTGACAAGCTGCACGTGGATCCTGAGAACTTCAG	ENSP00000494175.1:n.316-2_316-1insCTGTGACAAGCTGCACGTGGATCCTGA...
ENST00000335295.4:c.316-2_316-1insCTGTGACAAGCTGCACGTGGATCCTGAGAACTTCAG MANE Select	ENSP00000333994.3:n.316-2_316-1insCTGTGACAAGCTGCACGTGGATCCTGA...
ENST00000475226.1:n.248-2_248-1insCTGTGACAAGCTGCACGTGGATCCTGAGAACTTCAG
ENST00000633227.1:c.*132-2_*132-1insCTGTGACAAGCTGCACGTGGATCCTGAGAACTTCAG	ENSP00000488004.1:n.*132-2_*132-1insCTGTGACAAGCTGCACGTGGATCCT...
NM_000518.4:c.316-2_316-1insCTGTGACAAGCTGCACGTGGATCCTGAGAACTTCAG	NP_000509.1:n.316-2_316-1insCTGTGACAAGCTGCACGTGGATCCTGAGAACTT...
NM_000518.5:c.316-2_316-1insCTGTGACAAGCTGCACGTGGATCCTGAGAACTTCAG MANE Select	NP_000509.1:n.316-2_316-1insCTGTGACAAGCTGCACGTGGATCCTGAGAACTT...