Canonical Allele Identifier: CA2703858162

Gene: HGD

Linked Data

• dbSNP Id: rs2107548907

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.120670536_120670537insTGAA , CM000665.2:g.120670536_120670537insTGAA	GRCh38
NC_000003.11:g.120389383_120389384insTGAA , CM000665.1:g.120389383_120389384insTGAA	GRCh37
NC_000003.10:g.121872073_121872074insTGAA	NCBI36
NG_011957.1:g.16945_16946insTTCA

Transcript Alleles

HGVS	Amino-acid change
ENST00000283871.10:c.177-5_177-4insTTCA MANE Select	ENSP00000283871.5:n.177-5_177-4insTTCA
ENST00000283871.9:c.177-5_177-4insTTCA	ENSP00000283871.5:n.177-5_177-4insTTCA
ENST00000466528.5:n.203-5_203-4insTTCA
ENST00000476082.2:c.54-5_54-4insTTCA	ENSP00000419560.2:n.54-5_54-4insTTCA
ENST00000485313.5:n.285-5_285-4insTTCA
ENST00000488183.5:n.435-5_435-4insTTCA
NM_000187.3:c.177-5_177-4insTTCA	NP_000178.2:n.177-5_177-4insTTCA
XM_005247412.1:c.177-5_177-4insTTCA	XP_005247469.1:n.177-5_177-4insTTCA
XM_005247413.1:c.177-5_177-4insTTCA	XP_005247470.1:n.177-5_177-4insTTCA
XM_005247414.3:c.177-5_177-4insTTCA	XP_005247471.1:n.177-5_177-4insTTCA
XM_011512746.1:c.177-5_177-4insTTCA	XP_011511048.1:n.177-5_177-4insTTCA
XM_005247412.2:c.177-5_177-4insTTCA	XP_005247469.1:n.177-5_177-4insTTCA
XM_005247413.2:c.177-5_177-4insTTCA	XP_005247470.1:n.177-5_177-4insTTCA
XM_005247414.5:c.177-5_177-4insTTCA	XP_005247471.1:n.177-5_177-4insTTCA
XM_011512746.2:c.177-5_177-4insTTCA	XP_011511048.1:n.177-5_177-4insTTCA
XM_017006277.2:c.-247-5_-247-4insTTCA	XP_016861766.1:n.-247-5_-247-4insTTCA
NM_000187.4:c.177-5_177-4insTTCA MANE Select	NP_000178.2:n.177-5_177-4insTTCA