Canonical Allele Identifier: CA2667171013

Gene: HGD

Linked Data

• gnomAD v4: 3-120638350-TGGTG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.120638355_120638358del , CM000665.2:g.120638355_120638358del	GRCh38
NC_000003.11:g.120357202_120357205del , CM000665.1:g.120357202_120357205del	GRCh37
NC_000003.10:g.121839892_121839895del	NCBI36
NG_011957.1:g.49128_49131del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000283871.10:c.1006+101_1006+104del MANE Select	ENSP00000283871.5:n.1006+101_1006+104del
ENST00000283871.9:c.1006+101_1006+104del	ENSP00000283871.5:n.1006+101_1006+104del
ENST00000470321.1:n.346+101_346+104del
ENST00000475447.2:c.307+3235_307+3238del
ENST00000492108.5:c.285+3235_285+3238del	ENSP00000419838.1:n.285+3235_285+3238del
ENST00000494453.1:c.426+101_426+104del
NM_000187.3:c.1006+101_1006+104del	NP_000178.2:n.1006+101_1006+104del
XM_005247412.1:c.781+101_781+104del	XP_005247469.1:n.781+101_781+104del
XM_005247413.1:c.1006+101_1006+104del	XP_005247470.1:n.1006+101_1006+104del
XM_011512746.1:c.879+3235_879+3238del	XP_011511048.1:n.879+3235_879+3238del
XM_005247412.2:c.781+101_781+104del	XP_005247469.1:n.781+101_781+104del
XM_005247413.2:c.1006+101_1006+104del	XP_005247470.1:n.1006+101_1006+104del
XM_011512746.2:c.879+3235_879+3238del	XP_011511048.1:n.879+3235_879+3238del
XM_017006277.2:c.583+101_583+104del	XP_016861766.1:n.583+101_583+104del
NM_000187.4:c.1006+101_1006+104del MANE Select	NP_000178.2:n.1006+101_1006+104del