Canonical Allele Identifier: CA1397107337

Gene: HGD

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.120670392_120670393delinsTA , CM000665.2:g.120670392_120670393delinsTA	GRCh38
NC_000003.11:g.120389239_120389240delinsTA , CM000665.1:g.120389239_120389240delinsTA	GRCh37
NC_000003.10:g.121871929_121871930delinsTA	NCBI36
NG_011957.1:g.17089_17090delinsTA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000283871.10:c.282+34_282+35delinsTA MANE Select	ENSP00000283871.5:n.282+34_282+35delinsTA
ENST00000283871.9:c.282+34_282+35delinsTA	ENSP00000283871.5:n.282+34_282+35delinsTA
ENST00000466528.5:n.342_343delinsTA
ENST00000476082.2:c.159+34_159+35delinsTA	ENSP00000419560.2:n.159+34_159+35delinsTA
ENST00000485313.5:n.390+34_390+35delinsTA
ENST00000488183.5:n.540+34_540+35delinsTA
NM_000187.3:c.282+34_282+35delinsTA	NP_000178.2:n.282+34_282+35delinsTA
XM_005247412.1:c.282+34_282+35delinsTA	XP_005247469.1:n.282+34_282+35delinsTA
XM_005247413.1:c.282+34_282+35delinsTA	XP_005247470.1:n.282+34_282+35delinsTA
XM_005247414.3:c.282+34_282+35delinsTA	XP_005247471.1:n.282+34_282+35delinsTA
XM_011512746.1:c.282+34_282+35delinsTA	XP_011511048.1:n.282+34_282+35delinsTA
XM_005247412.2:c.282+34_282+35delinsTA	XP_005247469.1:n.282+34_282+35delinsTA
XM_005247413.2:c.282+34_282+35delinsTA	XP_005247470.1:n.282+34_282+35delinsTA
XM_005247414.5:c.282+34_282+35delinsTA	XP_005247471.1:n.282+34_282+35delinsTA
XM_011512746.2:c.282+34_282+35delinsTA	XP_011511048.1:n.282+34_282+35delinsTA
XM_017006277.2:c.-142+34_-142+35delinsTA	XP_016861766.1:n.-142+34_-142+35delinsTA
NM_000187.4:c.282+34_282+35delinsTA MANE Select	NP_000178.2:n.282+34_282+35delinsTA