Canonical Allele Identifier: CA1949583388
Gene: HBG1 HGNC NCBI
HBG2 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.5249224_5249225delinsGC , CM000673.2:g.5249224_5249225delinsGC GRCh38
NC_000011.9:g.5270454_5270455delinsGC , CM000673.1:g.5270454_5270455delinsGC GRCh37
NC_000011.8:g.5227030_5227031delinsGC NCBI36
NG_000007.3:g.48391_48392delinsGC

Transcript Alleles

HGVS Amino-acid change
ENST00000330597.5:c.315+143_315+144delinsGC (HBG1) MANE Select ENSP00000327431.4:n.315+143_315+144delinsGC
ENST00000642908.1:c.316-738_316-737delinsGC ENSP00000495346.1:n.316-738_316-737delinsGC
ENST00000647543.1:c.379-738_379-737delinsGC ENSP00000496470.1:n.379-738_379-737delinsGC
ENST00000648735.1:n.509_510delinsGC (HBG1)
ENST00000330597.3:c.315+143_315+144delinsGC (HBG1) ENSP00000327431.3:n.315+143_315+144delinsGC
ENST00000620888.4:c.316-738_316-737delinsGC (HBG2) ENSP00000479637.1:n.316-738_316-737delinsGC
ENST00000623781.1:c.43-147_43-146delinsGC ENSP00000485381.1:n.43-147_43-146delinsGC
ENST00000632727.1:c.*184+143_*184+144delinsGC (HBG1) ENSP00000488759.1:n.*184+143_*184+144delinsGC
NM_000559.2:c.315+143_315+144delinsGC (HBG1) NP_000550.2:n.315+143_315+144delinsGC
NM_000559.3:c.315+143_315+144delinsGC (HBG1) MANE Select NP_000550.2:n.315+143_315+144delinsGC
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