Canonical Allele Identifier: CA1949691939

Gene: HBE1 HBG2 OR51B5

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.5448314_5448315delinsAG , CM000673.2:g.5448314_5448315delinsAG	GRCh38
NC_000011.9:g.5469544_5469545delinsAG , CM000673.1:g.5469544_5469545delinsAG	GRCh37
NC_000011.8:g.5426120_5426121delinsAG	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000292896.3:c.-267+57254_-267+57255delinsCT (HBE1)	ENSP00000292896.2:n.-267+57254_-267+57255delinsCT
ENST00000380252.6:c.-74+57036_-74+57037delinsCT (HBG2)	ENSP00000369602.2:n.-74+57036_-74+57037delinsCT
ENST00000380259.7:c.983-102416_983-102415delinsCT	ENSP00000369609.3:n.983-102416_983-102415delinsCT
ENST00000415970.6:n.84+57254_84+57255delinsCT (OR51B5)
ENST00000418729.1:n.84+57254_84+57255delinsCT (OR51B5)
ENST00000420465.6:n.45+57254_45+57255delinsCT (OR51B5)
ENST00000420726.6:n.45+57254_45+57255delinsCT (OR51B5)
ENST00000380237.5:c.-310+57254_-310+57255delinsCT (HBE1)	ENSP00000369586.1:n.-310+57254_-310+57255delinsCT
ENST00000380252.5:c.62+57036_62+57037delinsCT (HBG2)	ENSP00000369602.1:n.62+57036_62+57037delinsCT
ENST00000380259.6:c.-564-102416_-564-102415delinsCT (HBG2)	ENSP00000369609.2:n.-564-102416_-564-102415delinsCT
ENST00000396895.1:c.-267+57254_-267+57255delinsCT (HBE1)	ENSP00000380104.1:n.-267+57254_-267+57255delinsCT
NM_001005567.2:c.-360+57254_-360+57255delinsCT (OR51B5)	NP_001005567.2:n.-360+57254_-360+57255delinsCT
NR_038321.1:n.84+57254_84+57255delinsCT (OR51B5)
XM_011520010.1:c.-360+2679_-360+2680delinsCT (OR51B5)	XP_011518312.1:n.-360+2679_-360+2680delinsCT
NM_001005567.3:c.-360+57254_-360+57255delinsCT (OR51B5)	NP_001005567.2:n.-360+57254_-360+57255delinsCT
NR_038321.2:n.84+57254_84+57255delinsCT (OR51B5)