Canonical Allele Identifier: CA472657732
Gene: HBE1 HGNC NCBI
HBG2 HGNC NCBI
OR51B5 HGNC NCBI

Linked Data

dbSNP Id: rs1268907267
gnomAD v2: 11-5469517-CAG-C
gnomAD v3: 11-5448287-CAG-C
gnomAD v4: 11-5448287-CAG-C
MyVariant Identifiers: chr11:g.5469518_5469519del (hg19) chr11:g.5448288_5448289del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.5448290_5448291del , CM000673.2:g.5448290_5448291del GRCh38
NC_000011.9:g.5469520_5469521del , CM000673.1:g.5469520_5469521del GRCh37
NC_000011.8:g.5426096_5426097del NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000292896.3:c.-267+57280_-267+57281del (HBE1) ENSP00000292896.2:n.-267+57280_-267+57281del
ENST00000380252.6:c.-74+57062_-74+57063del (HBG2) ENSP00000369602.2:n.-74+57062_-74+57063del
ENST00000380259.7:c.983-102390_983-102389del ENSP00000369609.3:n.983-102390_983-102389del
ENST00000415970.6:n.84+57280_84+57281del (OR51B5)
ENST00000418729.1:n.84+57280_84+57281del (OR51B5)
ENST00000420465.6:n.45+57280_45+57281del (OR51B5)
ENST00000420726.6:n.45+57280_45+57281del (OR51B5)
ENST00000380237.5:c.-310+57280_-310+57281del (HBE1) ENSP00000369586.1:n.-310+57280_-310+57281del
ENST00000380252.5:c.62+57062_62+57063del (HBG2) ENSP00000369602.1:n.62+57062_62+57063del
ENST00000380259.6:c.-564-102390_-564-102389del (HBG2) ENSP00000369609.2:n.-564-102390_-564-102389del
ENST00000396895.1:c.-267+57280_-267+57281del (HBE1) ENSP00000380104.1:n.-267+57280_-267+57281del
NM_001005567.2:c.-360+57280_-360+57281del (OR51B5) NP_001005567.2:n.-360+57280_-360+57281del
NR_038321.1:n.84+57280_84+57281del (OR51B5)
XM_011520010.1:c.-360+2705_-360+2706del (OR51B5) XP_011518312.1:n.-360+2705_-360+2706del
NM_001005567.3:c.-360+57280_-360+57281del (OR51B5) NP_001005567.2:n.-360+57280_-360+57281del
NR_038321.2:n.84+57280_84+57281del (OR51B5)
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