Canonical Allele Identifier: CA918809824
Gene: HBB HGNC NCBI

Linked Data

dbSNP Id: rs1554917494
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.5225624_5225627delinsGCT , CM000673.2:g.5225624_5225627delinsGCT GRCh38
NC_000011.9:g.5246854_5246857delinsGCT , CM000673.1:g.5246854_5246857delinsGCT GRCh37
NC_000011.8:g.5203430_5203433delinsGCT NCBI36
NG_000007.3:g.71989_71992delinsAGC
NG_059281.1:g.6445_6448delinsAGC

Transcript Alleles

HGVS Amino-acid Change
ENST00000647020.1:c.415_418delinsAGC ENSP00000494175.1:p.Ala139SerfsTer20
ENST00000335295.4:c.415_418delinsAGC MANE Select ENSP00000333994.3:p.Ala139SerfsTer20
ENST00000633227.1:c.*231_*234delinsAGC ENSP00000488004.1:n.*231_*234delinsAGC
NM_000518.4:c.415_418delinsAGC NP_000509.1:p.Ala139SerfsTer20
NM_000518.5:c.415_418delinsAGC MANE Select NP_000509.1:p.Ala139SerfsTer20
Search 100 bp 5'
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