Canonical Allele Identifier: CA81781392

Gene: HGD

Linked Data

• dbSNP Id: rs552542325
• gnomAD v4: 3-120638369-AC-A
• MyVariant Identifiers: chr3:g.120357217del (hg19) ; chr3:g.120638370del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.120638372del , CM000665.2:g.120638372del	GRCh38
NC_000003.11:g.120357219del , CM000665.1:g.120357219del	GRCh37
NC_000003.10:g.121839909del	NCBI36
NG_011957.1:g.49112del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000283871.10:c.1006+85del MANE Select	ENSP00000283871.5:n.1006+85del
ENST00000283871.9:c.1006+85del	ENSP00000283871.5:n.1006+85del
ENST00000470321.1:n.346+85del
ENST00000475447.2:c.307+3219del
ENST00000492108.5:c.285+3219del	ENSP00000419838.1:n.285+3219del
ENST00000494453.1:c.426+85del
NM_000187.3:c.1006+85del	NP_000178.2:n.1006+85del
XM_005247412.1:c.781+85del	XP_005247469.1:n.781+85del
XM_005247413.1:c.1006+85del	XP_005247470.1:n.1006+85del
XM_011512746.1:c.879+3219del	XP_011511048.1:n.879+3219del
XM_005247412.2:c.781+85del	XP_005247469.1:n.781+85del
XM_005247413.2:c.1006+85del	XP_005247470.1:n.1006+85del
XM_011512746.2:c.879+3219del	XP_011511048.1:n.879+3219del
XM_017006277.2:c.583+85del	XP_016861766.1:n.583+85del
NM_000187.4:c.1006+85del MANE Select	NP_000178.2:n.1006+85del