Canonical Allele Identifier: CA597220805
Gene: HBG1 HGNC NCBI
HBG2 HGNC NCBI

Linked Data

dbSNP Id: rs1486435298
gnomAD v2: 11-5270454-GC-G
gnomAD v3: 11-5249224-GC-G
gnomAD v4: 11-5249224-GC-G
MyVariant Identifiers: chr11:g.5270455del (hg19) chr11:g.5249225del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.5249227del , CM000673.2:g.5249227del GRCh38
NC_000011.9:g.5270457del , CM000673.1:g.5270457del GRCh37
NC_000011.8:g.5227033del NCBI36
NG_000007.3:g.48391del

Transcript Alleles

HGVS Amino-acid Change
ENST00000330597.5:c.315+143del (HBG1) MANE Select ENSP00000327431.4:n.315+143del
ENST00000642908.1:c.316-738del ENSP00000495346.1:n.316-738del
ENST00000647543.1:c.379-738del ENSP00000496470.1:n.379-738del
ENST00000648735.1:n.509del (HBG1)
ENST00000330597.3:c.315+143del (HBG1) ENSP00000327431.3:n.315+143del
ENST00000620888.4:c.316-738del (HBG2) ENSP00000479637.1:n.316-738del
ENST00000623781.1:c.43-144del ENSP00000485381.1:n.43-144del
ENST00000632727.1:c.*184+143del (HBG1) ENSP00000488759.1:n.*184+143del
NM_000559.2:c.315+143del (HBG1) NP_000550.2:n.315+143del
NM_000559.3:c.315+143del (HBG1) MANE Select NP_000550.2:n.315+143del
Search 100 bp 5'
Search 100 bp 3'