Canonical Allele Identifier: CA217112540
Gene: HBB HGNC NCBI

Linked Data

dbSNP Id: rs34843844
MyVariant Identifiers: chr11:g.5246893_5246894insTGG (hg19) chr11:g.5225663_5225664insTGG (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.5225667_5225669dup , CM000673.2:g.5225667_5225669dup GRCh38
NC_000011.9:g.5246897_5246899dup , CM000673.1:g.5246897_5246899dup GRCh37
NC_000011.8:g.5203473_5203475dup NCBI36
NG_000007.3:g.71950_71952dup
NG_059281.1:g.6406_6408dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000647020.1:c.376_378dup ENSP00000494175.1:p.Pro126_Val127insPro
ENST00000335295.4:c.376_378dup MANE Select ENSP00000333994.3:p.Pro126_Val127insPro
ENST00000475226.1:n.308_310dup
ENST00000633227.1:c.*192_*194dup ENSP00000488004.1:n.*192_*194dup
NM_000518.4:c.376_378dup NP_000509.1:p.Pro126_Val127insPro
NM_000518.5:c.376_378dup MANE Select NP_000509.1:p.Pro126_Val127insPro
Search 100 bp 5'
Search 100 bp 3'