Canonical Allele Identifier: CA897921563

Gene: HGD

Linked Data

• dbSNP Id: rs1405828525
• gnomAD v3: 3-120652424-TGTAA-T
• gnomAD v4: 3-120652424-TGTAA-T
• MyVariant Identifiers: chr3:g.120371272_120371275del (hg19) ; chr3:g.120652425_120652428del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.120652430_120652433del , CM000665.2:g.120652430_120652433del	GRCh38
NC_000003.11:g.120371277_120371280del , CM000665.1:g.120371277_120371280del	GRCh37
NC_000003.10:g.121853967_121853970del	NCBI36
NG_011957.1:g.35054_35057del

Transcript Alleles

HGVS	Amino-acid change
ENST00000283871.10:c.342+164_342+167del MANE Select	ENSP00000283871.5:n.342+164_342+167del
ENST00000283871.9:c.342+164_342+167del	ENSP00000283871.5:n.342+164_342+167del
ENST00000476082.2:c.219+164_219+167del	ENSP00000419560.2:n.219+164_219+167del
ENST00000485313.5:n.450+164_450+167del
NM_000187.3:c.342+164_342+167del	NP_000178.2:n.342+164_342+167del
XM_005247412.1:c.342+164_342+167del	XP_005247469.1:n.342+164_342+167del
XM_005247413.1:c.342+164_342+167del	XP_005247470.1:n.342+164_342+167del
XM_005247414.3:c.342+164_342+167del	XP_005247471.1:n.342+164_342+167del
XM_011512746.1:c.342+164_342+167del	XP_011511048.1:n.342+164_342+167del
XM_005247412.2:c.342+164_342+167del	XP_005247469.1:n.342+164_342+167del
XM_005247413.2:c.342+164_342+167del	XP_005247470.1:n.342+164_342+167del
XM_005247414.5:c.342+164_342+167del	XP_005247471.1:n.342+164_342+167del
XM_011512746.2:c.342+164_342+167del	XP_011511048.1:n.342+164_342+167del
XM_017006277.2:c.-82+164_-82+167del	XP_016861766.1:n.-82+164_-82+167del
NM_000187.4:c.342+164_342+167del MANE Select	NP_000178.2:n.342+164_342+167del