Canonical Allele Identifier: CA2723238343

Linked Data

dbSNP Id: rs2133782002

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.5448352_5448357del , CM000673.2:g.5448352_5448357del GRCh38
NC_000011.9:g.5469582_5469587del , CM000673.1:g.5469582_5469587del GRCh37
NC_000011.8:g.5426158_5426163del NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000292896.3:c.-267+57214_-267+57219del (HBE1) ENSP00000292896.2:n.-267+57214_-267+57219del
ENST00000380252.6:c.-74+56996_-74+57001del (HBG2) ENSP00000369602.2:n.-74+56996_-74+57001del
ENST00000380259.7:c.983-102456_983-102451del ENSP00000369609.3:n.983-102456_983-102451del
ENST00000415970.6:n.84+57214_84+57219del (OR51B5)
ENST00000418729.1:n.84+57214_84+57219del (OR51B5)
ENST00000420465.6:n.45+57214_45+57219del (OR51B5)
ENST00000420726.6:n.45+57214_45+57219del (OR51B5)
ENST00000380237.5:c.-310+57214_-310+57219del (HBE1) ENSP00000369586.1:n.-310+57214_-310+57219del
ENST00000380252.5:c.62+56996_62+57001del (HBG2) ENSP00000369602.1:n.62+56996_62+57001del
ENST00000380259.6:c.-564-102456_-564-102451del (HBG2) ENSP00000369609.2:n.-564-102456_-564-102451del
ENST00000396895.1:c.-267+57214_-267+57219del (HBE1) ENSP00000380104.1:n.-267+57214_-267+57219del
NM_001005567.2:c.-360+57214_-360+57219del (OR51B5) NP_001005567.2:n.-360+57214_-360+57219del
NR_038321.1:n.84+57214_84+57219del (OR51B5)
XM_011520010.1:c.-360+2639_-360+2644del (OR51B5) XP_011518312.1:n.-360+2639_-360+2644del
NM_001005567.3:c.-360+57214_-360+57219del (OR51B5) NP_001005567.2:n.-360+57214_-360+57219del
NR_038321.2:n.84+57214_84+57219del (OR51B5)