Canonical Allele Identifier: CA1949566012

Gene: HBB

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.5225999_5226003delinsTGAAA , CM000673.2:g.5225999_5226003delinsTGAAA	GRCh38
NC_000011.9:g.5247229_5247233delinsTGAAA , CM000673.1:g.5247229_5247233delinsTGAAA	GRCh37
NC_000011.8:g.5203805_5203809delinsTGAAA	NCBI36
NG_000007.3:g.71613_71617delinsTTTCA
NG_059281.1:g.6069_6073delinsTTTCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647020.1:c.316-277_316-273delinsTTTCA	ENSP00000494175.1:n.316-277_316-273delinsTTTCA
ENST00000335295.4:c.316-277_316-273delinsTTTCA MANE Select	ENSP00000333994.3:n.316-277_316-273delinsTTTCA
ENST00000475226.1:n.248-277_248-273delinsTTTCA
ENST00000633227.1:c.*132-277_*132-273delinsTTTCA	ENSP00000488004.1:n.*132-277_*132-273delinsTTTCA
NM_000518.4:c.316-277_316-273delinsTTTCA	NP_000509.1:n.316-277_316-273delinsTTTCA
NM_000518.5:c.316-277_316-273delinsTTTCA MANE Select	NP_000509.1:n.316-277_316-273delinsTTTCA