Canonical Allele Identifier: CA5839777

Gene: HBB

Linked Data

• dbSNP Id: rs779006439
• ExAC: 11:5248036 G / GCCTCACCACCAACTTCATCCACGTTCACCT
• gnomAD v2: 11-5248036-G-GCCTCACCACCAACTTCATCCACGTTCACCT
• MyVariant Identifiers: chr11:g.5248036_5248037insCCTCACCACCAACTTCATCCACGTTCACCT (hg19) ; chr11:g.5226806_5226807insCCTCACCACCAACTTCATCCACGTTCACCT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.5226806_5226807insCCTCACCACCAACTTCATCCACGTTCACCT , CM000673.2:g.5226806_5226807insCCTCACCACCAACTTCATCCACGTTCACCT	GRCh38
NC_000011.9:g.5248036_5248037insCCTCACCACCAACTTCATCCACGTTCACCT , CM000673.1:g.5248036_5248037insCCTCACCACCAACTTCATCCACGTTCACCT	GRCh37
NC_000011.8:g.5204612_5204613insCCTCACCACCAACTTCATCCACGTTCACCT	NCBI36
NG_000007.3:g.70809_70810insAGGTGAACGTGGATGAAGTTGGTGGTGAGG
NG_059281.1:g.5265_5266insAGGTGAACGTGGATGAAGTTGGTGGTGAGG

Transcript Alleles

HGVS	Amino-acid change
ENST00000647020.1:c.93-8_93-7insAGGTGAACGTGGATGAAGTTGGTGGTGAGG	ENSP00000494175.1:n.93-8_93-7insAGGTGAACGTGGATGAAGTTGGTGGTGAG...
ENST00000335295.4:c.93-8_93-7insAGGTGAACGTGGATGAAGTTGGTGGTGAGG MANE Select	ENSP00000333994.3:n.93-8_93-7insAGGTGAACGTGGATGAAGTTGGTGGTGAG...
ENST00000380315.2:c.93-8_93-7insAGGTGAACGTGGATGAAGTTGGTGGTGAGG	ENSP00000369671.2:n.93-8_93-7insAGGTGAACGTGGATGAAGTTGGTGGTGAG...
ENST00000475226.1:n.17_18insAGGTGAACGTGGATGAAGTTGGTGGTGAGG
ENST00000485743.1:n.144-8_144-7insAGGTGAACGTGGATGAAGTTGGTGGTGAGG
ENST00000633227.1:c.77-8_77-7insAGGTGAACGTGGATGAAGTTGGTGGTGAGG	ENSP00000488004.1:n.77-8_77-7insAGGTGAACGTGGATGAAGTTGGTGGTGAG...
NM_000518.4:c.93-8_93-7insAGGTGAACGTGGATGAAGTTGGTGGTGAGG	NP_000509.1:n.93-8_93-7insAGGTGAACGTGGATGAAGTTGGTGGTGAGG
NM_000518.5:c.93-8_93-7insAGGTGAACGTGGATGAAGTTGGTGGTGAGG MANE Select	NP_000509.1:n.93-8_93-7insAGGTGAACGTGGATGAAGTTGGTGGTGAGG