Canonical Allele Identifier: CA2577865259

Gene: HGD

Linked Data

• gnomAD v4: 3-120670540-GA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.120670545del , CM000665.2:g.120670545del	GRCh38
NC_000003.11:g.120389392del , CM000665.1:g.120389392del	GRCh37
NC_000003.10:g.121872082del	NCBI36
NG_011957.1:g.16941del

Transcript Alleles

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