Canonical Allele Identifier: CA3142195

Gene: HPGD

Linked Data

• ClinVar Variation Id: 1408124
• ClinVar RCV Id: RCV001937967
• dbSNP Id: rs758621450
• ExAC: 4:175414293 TTTAC / T
• gnomAD v2: 4-175414293-TTTAC-T
• gnomAD v3: 4-174493142-TTTAC-T
• gnomAD v4: 4-174493142-TTTAC-T
• MyVariant Identifiers: chr4:g.175414294_175414297del (hg19) ; chr4:g.174493144_174493147del (hg38) ; chr4:g.174493143_174493146del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.174493148_174493151del , CM000666.2:g.174493148_174493151del	GRCh38
NC_000004.11:g.175414299_175414302del , CM000666.1:g.175414299_175414302del	GRCh37
NC_000004.10:g.175650874_175650877del	NCBI36
NG_011689.1:g.34496_34499del

Transcript Alleles

HGVS	Amino-acid change
ENST00000296522.11:c.662+5_662+8del
ENST00000296521.11:c.499-1052_499-1049del	ENSP00000296521.7:n.499-1052_499-1049del
ENST00000296522.10:c.662+5_662+8del
ENST00000422112.6:c.458+5_458+8del
ENST00000508330.5:c.*291+5_*291+8del
ENST00000509512.1:n.311+5_311+8del
ENST00000510835.5:c.*424+5_*424+8del
ENST00000510901.5:c.299+5_299+8del
ENST00000511499.5:n.446+5_446+8del
ENST00000541923.5:c.299+5_299+8del
ENST00000542498.5:c.422-1052_422-1049del	ENSP00000443644.1:n.422-1052_422-1049del
NM_000860.5:c.662+5_662+8del
NM_001145816.2:c.499-1052_499-1049del	NP_001139288.1:n.499-1052_499-1049del
NM_001256301.1:c.299+5_299+8del
NM_001256305.1:c.422-1052_422-1049del	NP_001243234.1:n.422-1052_422-1049del
NM_001256306.1:c.458+5_458+8del
NM_001256307.1:c.299+5_299+8del
NM_000860.6:c.662+5_662+8del
NM_001145816.3:c.499-1052_499-1049del	NP_001139288.1:n.499-1052_499-1049del
NM_001256305.2:c.422-1052_422-1049del	NP_001243234.1:n.422-1052_422-1049del
NM_001256306.2:c.458+5_458+8del
NM_001256307.2:c.299+5_299+8del