Canonical Allele Identifier: CA2612162259
Gene: HBB HGNC NCBI

Linked Data

gnomAD v4: 11-5226660-G-GCTTTATGGCATCTCCCA
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.5226660_5226661insCTTTATGGCATCTCCCA , CM000673.2:g.5226660_5226661insCTTTATGGCATCTCCCA GRCh38
NC_000011.9:g.5247890_5247891insCTTTATGGCATCTCCCA , CM000673.1:g.5247890_5247891insCTTTATGGCATCTCCCA GRCh37
NC_000011.8:g.5204466_5204467insCTTTATGGCATCTCCCA NCBI36
NG_000007.3:g.70955_70956insTGGGAGATGCCATAAAG
NG_059281.1:g.5411_5412insTGGGAGATGCCATAAAG

Transcript Alleles

HGVS Amino-acid change
ENST00000647020.1:c.231_232insTGGGAGATGCCATAAAG ENSP00000494175.1:p.His78TrpfsTer5
ENST00000335295.4:c.231_232insTGGGAGATGCCATAAAG MANE Select ENSP00000333994.3:p.His78TrpfsTer5
ENST00000380315.2:c.231_232insTGGGAGATGCCATAAAG ENSP00000369671.2:p.His78TrpfsTer5
ENST00000475226.1:n.163_164insTGGGAGATGCCATAAAG
ENST00000485743.1:n.282_283insTGGGAGATGCCATAAAG
ENST00000633227.1:c.*47_*48insTGGGAGATGCCATAAAG ENSP00000488004.1:n.*47_*48insTGGGAGATGCCATAAAG
NM_000518.4:c.231_232insTGGGAGATGCCATAAAG NP_000509.1:p.His78TrpfsTer5
NM_000518.5:c.231_232insTGGGAGATGCCATAAAG MANE Select NP_000509.1:p.His78TrpfsTer5
Search 100 bp 5'
Search 100 bp 3'