Canonical Allele Identifier: CA2672714415

Gene: HPGD

Linked Data

• gnomAD v4: 4-174493066-T-TAAGCTTATACAGTTGAGAAATGAACAC

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.174493074_174493075insACAGTTGAGAAATGAACACAAGCTTAT , CM000666.2:g.174493074_174493075insACAGTTGAGAAATGAACACAAGCTTAT	GRCh38
NC_000004.11:g.175414225_175414226insACAGTTGAGAAATGAACACAAGCTTAT , CM000666.1:g.175414225_175414226insACAGTTGAGAAATGAACACAAGCTTAT	GRCh37
NC_000004.10:g.175650800_175650801insACAGTTGAGAAATGAACACAAGCTTAT	NCBI36
NG_011689.1:g.34575_34576insGTGTTCATTTCTCAACTGTATAAGCTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296522.11:c.662+84_662+85insGTGTTCATTTCTCAACTGTATAAGCTT MANE Select	ENSP00000296522.6:n.662+84_662+85insGTGTTCATTTCTCAACTGTATAAGC...
ENST00000296521.11:c.499-973_499-972insGTGTTCATTTCTCAACTGTATAAGCTT	ENSP00000296521.7:n.499-973_499-972insGTGTTCATTTCTCAACTGTATAA...
ENST00000296522.10:c.662+84_662+85insGTGTTCATTTCTCAACTGTATAAGCTT	ENSP00000296522.6:n.662+84_662+85insGTGTTCATTTCTCAACTGTATAAGC...
ENST00000422112.6:c.458+84_458+85insGTGTTCATTTCTCAACTGTATAAGCTT	ENSP00000398720.2:n.458+84_458+85insGTGTTCATTTCTCAACTGTATAAGC...
ENST00000508330.5:c.*291+84_*291+85insGTGTTCATTTCTCAACTGTATAAGCTT	ENSP00000425741.1:n.*291+84_*291+85insGTGTTCATTTCTCAACTGTATAA...
ENST00000509512.1:n.311+84_311+85insGTGTTCATTTCTCAACTGTATAAGCTT
ENST00000510835.5:c.*424+84_*424+85insGTGTTCATTTCTCAACTGTATAAGCTT	ENSP00000427699.1:n.*424+84_*424+85insGTGTTCATTTCTCAACTGTATAA...
ENST00000510901.5:c.299+84_299+85insGTGTTCATTTCTCAACTGTATAAGCTT	ENSP00000422418.1:n.299+84_299+85insGTGTTCATTTCTCAACTGTATAAGC...
ENST00000511499.5:n.446+84_446+85insGTGTTCATTTCTCAACTGTATAAGCTT
ENST00000541923.5:c.299+84_299+85insGTGTTCATTTCTCAACTGTATAAGCTT	ENSP00000438017.1:n.299+84_299+85insGTGTTCATTTCTCAACTGTATAAGC...
ENST00000542498.5:c.422-973_422-972insGTGTTCATTTCTCAACTGTATAAGCTT	ENSP00000443644.1:n.422-973_422-972insGTGTTCATTTCTCAACTGTATAA...
NM_000860.5:c.662+84_662+85insGTGTTCATTTCTCAACTGTATAAGCTT	NP_000851.2:n.662+84_662+85insGTGTTCATTTCTCAACTGTATAAGCTT
NM_001145816.2:c.499-973_499-972insGTGTTCATTTCTCAACTGTATAAGCTT	NP_001139288.1:n.499-973_499-972insGTGTTCATTTCTCAACTGTATAAGCT...
NM_001256301.1:c.299+84_299+85insGTGTTCATTTCTCAACTGTATAAGCTT	NP_001243230.1:n.299+84_299+85insGTGTTCATTTCTCAACTGTATAAGCTT
NM_001256305.1:c.422-973_422-972insGTGTTCATTTCTCAACTGTATAAGCTT	NP_001243234.1:n.422-973_422-972insGTGTTCATTTCTCAACTGTATAAGCT...
NM_001256306.1:c.458+84_458+85insGTGTTCATTTCTCAACTGTATAAGCTT	NP_001243235.1:n.458+84_458+85insGTGTTCATTTCTCAACTGTATAAGCTT
NM_001256307.1:c.299+84_299+85insGTGTTCATTTCTCAACTGTATAAGCTT	NP_001243236.1:n.299+84_299+85insGTGTTCATTTCTCAACTGTATAAGCTT
NM_000860.6:c.662+84_662+85insGTGTTCATTTCTCAACTGTATAAGCTT MANE Select	NP_000851.2:n.662+84_662+85insGTGTTCATTTCTCAACTGTATAAGCTT
NM_001145816.3:c.499-973_499-972insGTGTTCATTTCTCAACTGTATAAGCTT	NP_001139288.1:n.499-973_499-972insGTGTTCATTTCTCAACTGTATAAGCT...
NM_001256305.2:c.422-973_422-972insGTGTTCATTTCTCAACTGTATAAGCTT	NP_001243234.1:n.422-973_422-972insGTGTTCATTTCTCAACTGTATAAGCT...
NM_001256306.2:c.458+84_458+85insGTGTTCATTTCTCAACTGTATAAGCTT	NP_001243235.1:n.458+84_458+85insGTGTTCATTTCTCAACTGTATAAGCTT
NM_001256307.2:c.299+84_299+85insGTGTTCATTTCTCAACTGTATAAGCTT	NP_001243236.1:n.299+84_299+85insGTGTTCATTTCTCAACTGTATAAGCTT