Canonical Allele Identifier: CA2577865348

Gene: HGD

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.120650692_120650693del , CM000665.2:g.120650692_120650693del	GRCh38
NC_000003.11:g.120369539_120369540del , CM000665.1:g.120369539_120369540del	GRCh37
NC_000003.10:g.121852229_121852230del	NCBI36
NG_011957.1:g.36791_36792del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000283871.10:c.434+83_434+84del MANE Select	ENSP00000283871.5:n.434+83_434+84del
ENST00000283871.9:c.434+83_434+84del	ENSP00000283871.5:n.434+83_434+84del
ENST00000476082.2:c.311+83_311+84del	ENSP00000419560.2:n.311+83_311+84del
ENST00000492108.5:c.65+83_65+84del	ENSP00000419838.1:n.65+83_65+84del
NM_000187.3:c.434+83_434+84del	NP_000178.2:n.434+83_434+84del
XM_005247412.1:c.434+83_434+84del	XP_005247469.1:n.434+83_434+84del
XM_005247413.1:c.434+83_434+84del	XP_005247470.1:n.434+83_434+84del
XM_005247414.3:c.434+83_434+84del	XP_005247471.1:n.434+83_434+84del
XM_011512746.1:c.434+83_434+84del	XP_011511048.1:n.434+83_434+84del
XM_005247412.2:c.434+83_434+84del	XP_005247469.1:n.434+83_434+84del
XM_005247413.2:c.434+83_434+84del	XP_005247470.1:n.434+83_434+84del
XM_005247414.5:c.434+83_434+84del	XP_005247471.1:n.434+83_434+84del
XM_011512746.2:c.434+83_434+84del	XP_011511048.1:n.434+83_434+84del
XM_017006277.2:c.11+83_11+84del	XP_016861766.1:n.11+83_11+84del
NM_000187.4:c.434+83_434+84del MANE Select	NP_000178.2:n.434+83_434+84del