Canonical Allele Identifier: CA678230038

Gene: HBE1 HBG2 OR51B5

Linked Data

• dbSNP Id: rs1252949004
• gnomAD v3: 11-5448314-AG-A
• gnomAD v4: 11-5448314-AG-A
• MyVariant Identifiers: chr11:g.5469545del (hg19) ; chr11:g.5448315del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.5448315del , CM000673.2:g.5448315del	GRCh38
NC_000011.9:g.5469545del , CM000673.1:g.5469545del	GRCh37
NC_000011.8:g.5426121del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000292896.3:c.-267+57254del (HBE1)	ENSP00000292896.2:n.-267+57254del
ENST00000380252.6:c.-74+57036del (HBG2)	ENSP00000369602.2:n.-74+57036del
ENST00000380259.7:c.983-102416del	ENSP00000369609.3:n.983-102416del
ENST00000415970.6:n.84+57254del (OR51B5)
ENST00000418729.1:n.84+57254del (OR51B5)
ENST00000420465.6:n.45+57254del (OR51B5)
ENST00000420726.6:n.45+57254del (OR51B5)
ENST00000380237.5:c.-310+57254del (HBE1)	ENSP00000369586.1:n.-310+57254del
ENST00000380252.5:c.62+57036del (HBG2)	ENSP00000369602.1:n.62+57036del
ENST00000380259.6:c.-564-102416del (HBG2)	ENSP00000369609.2:n.-564-102416del
ENST00000396895.1:c.-267+57254del (HBE1)	ENSP00000380104.1:n.-267+57254del
NM_001005567.2:c.-360+57254del (OR51B5)	NP_001005567.2:n.-360+57254del
NR_038321.1:n.84+57254del (OR51B5)
XM_011520010.1:c.-360+2679del (OR51B5)	XP_011518312.1:n.-360+2679del
NM_001005567.3:c.-360+57254del (OR51B5)	NP_001005567.2:n.-360+57254del
NR_038321.2:n.84+57254del (OR51B5)