Canonical Allele Identifier: CA2612150210
Gene: HBG1 HGNC NCBI
HBG2 HGNC NCBI

Linked Data

gnomAD v4: 11-5249308-CCGT-C
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.5249309_5249311del , CM000673.2:g.5249309_5249311del GRCh38
NC_000011.9:g.5270539_5270541del , CM000673.1:g.5270539_5270541del GRCh37
NC_000011.8:g.5227115_5227117del NCBI36
NG_000007.3:g.48305_48307del

Transcript Alleles

HGVS Amino-acid change
ENST00000330597.5:c.315+57_315+59del (HBG1) MANE Select ENSP00000327431.4:n.315+57_315+59del
ENST00000642908.1:c.316-824_316-822del ENSP00000495346.1:n.316-824_316-822del
ENST00000647543.1:c.379-824_379-822del ENSP00000496470.1:n.379-824_379-822del
ENST00000648735.1:n.423_425del (HBG1)
ENST00000330597.3:c.315+57_315+59del (HBG1) ENSP00000327431.3:n.315+57_315+59del
ENST00000620888.4:c.316-824_316-822del (HBG2) ENSP00000479637.1:n.316-824_316-822del
ENST00000623781.1:c.43-62_43-60del ENSP00000485381.1:n.43-62_43-60del
ENST00000632727.1:c.*184+57_*184+59del (HBG1) ENSP00000488759.1:n.*184+57_*184+59del
NM_000559.2:c.315+57_315+59del (HBG1) NP_000550.2:n.315+57_315+59del
NM_000559.3:c.315+57_315+59del (HBG1) MANE Select NP_000550.2:n.315+57_315+59del
Search 100 bp 5'
Search 100 bp 3'