Canonical Allele Identifier: CA81806830

Gene: HGD

Linked Data

• dbSNP Id: rs561368262
• gnomAD v2: 3-120389177-ACTAT-A
• gnomAD v3: 3-120670330-ACTAT-A
• gnomAD v4: 3-120670330-ACTAT-A
• MyVariant Identifiers: chr3:g.120389178_120389181del (hg19) ; chr3:g.120670331_120670334del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.120670335_120670338del , CM000665.2:g.120670335_120670338del	GRCh38
NC_000003.11:g.120389182_120389185del , CM000665.1:g.120389182_120389185del	GRCh37
NC_000003.10:g.121871872_121871875del	NCBI36
NG_011957.1:g.17148_17151del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000283871.10:c.282+93_282+96del MANE Select	ENSP00000283871.5:n.282+93_282+96del
ENST00000283871.9:c.282+93_282+96del	ENSP00000283871.5:n.282+93_282+96del
ENST00000466528.5:n.401_404del
ENST00000476082.2:c.159+93_159+96del	ENSP00000419560.2:n.159+93_159+96del
ENST00000485313.5:n.390+93_390+96del
ENST00000488183.5:n.540+93_540+96del
NM_000187.3:c.282+93_282+96del	NP_000178.2:n.282+93_282+96del
XM_005247412.1:c.282+93_282+96del	XP_005247469.1:n.282+93_282+96del
XM_005247413.1:c.282+93_282+96del	XP_005247470.1:n.282+93_282+96del
XM_005247414.3:c.282+93_282+96del	XP_005247471.1:n.282+93_282+96del
XM_011512746.1:c.282+93_282+96del	XP_011511048.1:n.282+93_282+96del
XM_005247412.2:c.282+93_282+96del	XP_005247469.1:n.282+93_282+96del
XM_005247413.2:c.282+93_282+96del	XP_005247470.1:n.282+93_282+96del
XM_005247414.5:c.282+93_282+96del	XP_005247471.1:n.282+93_282+96del
XM_011512746.2:c.282+93_282+96del	XP_011511048.1:n.282+93_282+96del
XM_017006277.2:c.-142+93_-142+96del	XP_016861766.1:n.-142+93_-142+96del
NM_000187.4:c.282+93_282+96del MANE Select	NP_000178.2:n.282+93_282+96del