Canonical Allele Identifier: CA597436107
Gene: HBB HGNC NCBI

Linked Data

ClinVar Variation Id: 2019850
ClinVar RCV Id: RCV002852128
dbSNP Id: rs1282253170
gnomAD v2: 11-5247577-T-TA
gnomAD v3: 11-5226347-T-TA
gnomAD v4: 11-5226347-T-TA
MyVariant Identifiers: chr11:g.5247577_5247578insA (hg19) chr11:g.5226347_5226348insA (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.5226352dup , CM000673.2:g.5226352dup GRCh38
NC_000011.9:g.5247582dup , CM000673.1:g.5247582dup GRCh37
NC_000011.8:g.5204158dup NCBI36
NG_000007.3:g.71268dup
NG_059281.1:g.5724dup

Transcript Alleles

HGVS Amino-acid change
ENST00000647020.1:c.315+229dup ENSP00000494175.1:n.315+229dup
ENST00000335295.4:c.315+229dup MANE Select ENSP00000333994.3:n.315+229dup
ENST00000475226.1:n.247+229dup
ENST00000485743.1:n.595dup
ENST00000633227.1:c.*131+229dup ENSP00000488004.1:n.*131+229dup
NM_000518.4:c.315+229dup NP_000509.1:n.315+229dup
NM_000518.5:c.315+229dup MANE Select NP_000509.1:n.315+229dup
Search 100 bp 5'
Search 100 bp 3'