Canonical Allele Identifier: CA1397092993

Gene: HGD

Linked Data

• dbSNP Id: rs1940846399

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.120638273_120638275dup , CM000665.2:g.120638273_120638275dup	GRCh38
NC_000003.11:g.120357120_120357122dup , CM000665.1:g.120357120_120357122dup	GRCh37
NC_000003.10:g.121839810_121839812dup	NCBI36
NG_011957.1:g.49209_49211dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000283871.10:c.1006+182_1006+184dup MANE Select	ENSP00000283871.5:n.1006+182_1006+184dup
ENST00000283871.9:c.1006+182_1006+184dup	ENSP00000283871.5:n.1006+182_1006+184dup
ENST00000470321.1:n.346+182_346+184dup
ENST00000475447.2:c.307+3316_307+3318dup
ENST00000492108.5:c.285+3316_285+3318dup	ENSP00000419838.1:n.285+3316_285+3318dup
ENST00000494453.1:c.426+182_426+184dup
NM_000187.3:c.1006+182_1006+184dup	NP_000178.2:n.1006+182_1006+184dup
XM_005247412.1:c.781+182_781+184dup	XP_005247469.1:n.781+182_781+184dup
XM_005247413.1:c.1006+182_1006+184dup	XP_005247470.1:n.1006+182_1006+184dup
XM_011512746.1:c.879+3316_879+3318dup	XP_011511048.1:n.879+3316_879+3318dup
XM_005247412.2:c.781+182_781+184dup	XP_005247469.1:n.781+182_781+184dup
XM_005247413.2:c.1006+182_1006+184dup	XP_005247470.1:n.1006+182_1006+184dup
XM_011512746.2:c.879+3316_879+3318dup	XP_011511048.1:n.879+3316_879+3318dup
XM_017006277.2:c.583+182_583+184dup	XP_016861766.1:n.583+182_583+184dup
NM_000187.4:c.1006+182_1006+184dup MANE Select	NP_000178.2:n.1006+182_1006+184dup