Canonical Allele Identifier: CA2697556803

Gene: HGD

Linked Data

• ClinVar Variation Id: 2702601
• ClinVar RCV Id: RCV003501120

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.120670544_120670547del , CM000665.2:g.120670544_120670547del	GRCh38
NC_000003.11:g.120389391_120389394del , CM000665.1:g.120389391_120389394del	GRCh37
NC_000003.10:g.121872081_121872084del	NCBI36
NG_011957.1:g.16936_16939del

Transcript Alleles

HGVS	Amino-acid change
ENST00000283871.10:c.177-14_177-11del MANE Select	ENSP00000283871.5:n.177-14_177-11del
ENST00000283871.9:c.177-14_177-11del	ENSP00000283871.5:n.177-14_177-11del
ENST00000466528.5:n.203-14_203-11del
ENST00000476082.2:c.54-14_54-11del	ENSP00000419560.2:n.54-14_54-11del
ENST00000485313.5:n.285-14_285-11del
ENST00000488183.5:n.435-14_435-11del
NM_000187.3:c.177-14_177-11del	NP_000178.2:n.177-14_177-11del
XM_005247412.1:c.177-14_177-11del	XP_005247469.1:n.177-14_177-11del
XM_005247413.1:c.177-14_177-11del	XP_005247470.1:n.177-14_177-11del
XM_005247414.3:c.177-14_177-11del	XP_005247471.1:n.177-14_177-11del
XM_011512746.1:c.177-14_177-11del	XP_011511048.1:n.177-14_177-11del
XM_005247412.2:c.177-14_177-11del	XP_005247469.1:n.177-14_177-11del
XM_005247413.2:c.177-14_177-11del	XP_005247470.1:n.177-14_177-11del
XM_005247414.5:c.177-14_177-11del	XP_005247471.1:n.177-14_177-11del
XM_011512746.2:c.177-14_177-11del	XP_011511048.1:n.177-14_177-11del
XM_017006277.2:c.-247-14_-247-11del	XP_016861766.1:n.-247-14_-247-11del
NM_000187.4:c.177-14_177-11del MANE Select	NP_000178.2:n.177-14_177-11del