Canonical Allele Identifier: CA1397096678

Gene: HGD

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.120646553_120646554delinsTA , CM000665.2:g.120646553_120646554delinsTA	GRCh38
NC_000003.11:g.120365400_120365401delinsTA , CM000665.1:g.120365400_120365401delinsTA	GRCh37
NC_000003.10:g.121848090_121848091delinsTA	NCBI36
NG_011957.1:g.40928_40929delinsTA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000283871.10:c.550-188_550-187delinsTA MANE Select	ENSP00000283871.5:n.550-188_550-187delinsTA
ENST00000283871.9:c.550-188_550-187delinsTA	ENSP00000283871.5:n.550-188_550-187delinsTA
ENST00000475447.2:c.81-188_81-187delinsTA
ENST00000492108.5:c.180+419_180+420delinsTA	ENSP00000419838.1:n.180+419_180+420delinsTA
NM_000187.3:c.550-188_550-187delinsTA	NP_000178.2:n.550-188_550-187delinsTA
XM_005247412.1:c.549+419_549+420delinsTA	XP_005247469.1:n.549+419_549+420delinsTA
XM_005247413.1:c.550-188_550-187delinsTA	XP_005247470.1:n.550-188_550-187delinsTA
XM_005247414.3:c.550-188_550-187delinsTA	XP_005247471.1:n.550-188_550-187delinsTA
XM_011512746.1:c.550-188_550-187delinsTA	XP_011511048.1:n.550-188_550-187delinsTA
XM_005247412.2:c.549+419_549+420delinsTA	XP_005247469.1:n.549+419_549+420delinsTA
XM_005247413.2:c.550-188_550-187delinsTA	XP_005247470.1:n.550-188_550-187delinsTA
XM_005247414.5:c.550-188_550-187delinsTA	XP_005247471.1:n.550-188_550-187delinsTA
XM_011512746.2:c.550-188_550-187delinsTA	XP_011511048.1:n.550-188_550-187delinsTA
XM_017006277.2:c.127-188_127-187delinsTA	XP_016861766.1:n.127-188_127-187delinsTA
NM_000187.4:c.550-188_550-187delinsTA MANE Select	NP_000178.2:n.550-188_550-187delinsTA