Canonical Allele Identifier: CA217112723
Gene: HBB HGNC NCBI

Linked Data

dbSNP Id: rs1554917600
MyVariant Identifiers: chr11:g.5246922_5246923insGGGCCAGCACAC (hg19) chr11:g.5225692_5225693insGGGCCAGCACAC (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.5225693_5225704dup , CM000673.2:g.5225693_5225704dup GRCh38
NC_000011.9:g.5246923_5246934dup , CM000673.1:g.5246923_5246934dup GRCh37
NC_000011.8:g.5203499_5203510dup NCBI36
NG_000007.3:g.71912_71923dup
NG_059281.1:g.6368_6379dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000647020.1:c.338_349dup ENSP00000494175.1:p.Ala116_His117insArgValLeuAla
ENST00000335295.4:c.338_349dup MANE Select ENSP00000333994.3:p.Ala116_His117insArgValLeuAla
ENST00000475226.1:n.270_281dup
ENST00000633227.1:c.*154_*165dup ENSP00000488004.1:n.*154_*165dup
NM_000518.4:c.338_349dup NP_000509.1:p.Ala116_His117insArgValLeuAla
NM_000518.5:c.338_349dup MANE Select NP_000509.1:p.Ala116_His117insArgValLeuAla
Search 100 bp 5'
Search 100 bp 3'