Canonical Allele Identifier: CA1949564512
Gene: HBB HGNC NCBI
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.5225644_5225646delinsTTC , CM000673.2:g.5225644_5225646delinsTTC GRCh38
NC_000011.9:g.5246874_5246876delinsTTC , CM000673.1:g.5246874_5246876delinsTTC GRCh37
NC_000011.8:g.5203450_5203452delinsTTC NCBI36
NG_000007.3:g.71970_71972delinsGAA
NG_059281.1:g.6426_6428delinsGAA

Transcript Alleles

HGVS Amino-acid Change
ENST00000647020.1:c.396_398delinsGAA ENSP00000494175.1:p.Gln132=
ENST00000335295.4:c.396_398delinsGAA MANE Select ENSP00000333994.3:p.Gln132=
ENST00000633227.1:c.*212_*214delinsGAA ENSP00000488004.1:n.*212_*214delinsGAA
NM_000518.4:c.396_398delinsGAA NP_000509.1:p.Gln132=
NM_000518.5:c.396_398delinsGAA MANE Select NP_000509.1:p.Gln132=
Search 100 bp 5'
Search 100 bp 3'