Canonical Allele Identifier: CA2672714485
Gene: HPGD HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.174493315_174493316insGCTGCTGAGCGTGTGAATCCAACTA , CM000666.2:g.174493315_174493316insGCTGCTGAGCGTGTGAATCCAACTA GRCh38
NC_000004.11:g.175414466_175414467insGCTGCTGAGCGTGTGAATCCAACTA , CM000666.1:g.175414466_175414467insGCTGCTGAGCGTGTGAATCCAACTA GRCh37
NC_000004.10:g.175651041_175651042insGCTGCTGAGCGTGTGAATCCAACTA NCBI36
NG_011689.1:g.34326_34327insTAGTTGGATTCACACGCTCAGCAGC

Transcript Alleles

HGVS Amino-acid Change
ENST00000296522.11:c.499-2_499-1insTAGTTGGATTCACACGCTCAGCAGC MANE Select ENSP00000296522.6:n.499-2_499-1insTAGTTGGATTCACACGCTCAGCAGC
ENST00000296521.11:c.499-1222_499-1221insTAGTTGGATTCACACGCTCAGCAGC ENSP00000296521.7:n.499-1222_499-1221insTAGTTGGATTCACACGCTCAG...
ENST00000296522.10:c.499-2_499-1insTAGTTGGATTCACACGCTCAGCAGC ENSP00000296522.6:n.499-2_499-1insTAGTTGGATTCACACGCTCAGCAGC
ENST00000422112.6:c.295-2_295-1insTAGTTGGATTCACACGCTCAGCAGC ENSP00000398720.2:n.295-2_295-1insTAGTTGGATTCACACGCTCAGCAGC
ENST00000506910.5:c.136-2_136-1insTAGTTGGATTCACACGCTCAGCAGC ENSP00000423066.1:n.136-2_136-1insTAGTTGGATTCACACGCTCAGCAGC
ENST00000508330.5:c.*128-2_*128-1insTAGTTGGATTCACACGCTCAGCAGC ENSP00000425741.1:n.*128-2_*128-1insTAGTTGGATTCACACGCTCAGCAGC...
ENST00000509512.1:n.146_147insTAGTTGGATTCACACGCTCAGCAGC
ENST00000510835.5:c.*261-2_*261-1insTAGTTGGATTCACACGCTCAGCAGC ENSP00000427699.1:n.*261-2_*261-1insTAGTTGGATTCACACGCTCAGCAGC...
ENST00000510901.5:c.136-2_136-1insTAGTTGGATTCACACGCTCAGCAGC ENSP00000422418.1:n.136-2_136-1insTAGTTGGATTCACACGCTCAGCAGC
ENST00000511499.5:n.283-2_283-1insTAGTTGGATTCACACGCTCAGCAGC
ENST00000514584.5:c.136-2_136-1insTAGTTGGATTCACACGCTCAGCAGC ENSP00000423110.1:n.136-2_136-1insTAGTTGGATTCACACGCTCAGCAGC
ENST00000541923.5:c.136-2_136-1insTAGTTGGATTCACACGCTCAGCAGC ENSP00000438017.1:n.136-2_136-1insTAGTTGGATTCACACGCTCAGCAGC
ENST00000542498.5:c.422-1222_422-1221insTAGTTGGATTCACACGCTCAGCAGC ENSP00000443644.1:n.422-1222_422-1221insTAGTTGGATTCACACGCTCAG...
NM_000860.5:c.499-2_499-1insTAGTTGGATTCACACGCTCAGCAGC NP_000851.2:n.499-2_499-1insTAGTTGGATTCACACGCTCAGCAGC
NM_001145816.2:c.499-1222_499-1221insTAGTTGGATTCACACGCTCAGCAGC NP_001139288.1:n.499-1222_499-1221insTAGTTGGATTCACACGCTCAGCAG...
NM_001256301.1:c.136-2_136-1insTAGTTGGATTCACACGCTCAGCAGC NP_001243230.1:n.136-2_136-1insTAGTTGGATTCACACGCTCAGCAGC
NM_001256305.1:c.422-1222_422-1221insTAGTTGGATTCACACGCTCAGCAGC NP_001243234.1:n.422-1222_422-1221insTAGTTGGATTCACACGCTCAGCAG...
NM_001256306.1:c.295-2_295-1insTAGTTGGATTCACACGCTCAGCAGC NP_001243235.1:n.295-2_295-1insTAGTTGGATTCACACGCTCAGCAGC
NM_001256307.1:c.136-2_136-1insTAGTTGGATTCACACGCTCAGCAGC NP_001243236.1:n.136-2_136-1insTAGTTGGATTCACACGCTCAGCAGC
NM_000860.6:c.499-2_499-1insTAGTTGGATTCACACGCTCAGCAGC MANE Select NP_000851.2:n.499-2_499-1insTAGTTGGATTCACACGCTCAGCAGC
NM_001145816.3:c.499-1222_499-1221insTAGTTGGATTCACACGCTCAGCAGC NP_001139288.1:n.499-1222_499-1221insTAGTTGGATTCACACGCTCAGCAG...
NM_001256305.2:c.422-1222_422-1221insTAGTTGGATTCACACGCTCAGCAGC NP_001243234.1:n.422-1222_422-1221insTAGTTGGATTCACACGCTCAGCAG...
NM_001256306.2:c.295-2_295-1insTAGTTGGATTCACACGCTCAGCAGC NP_001243235.1:n.295-2_295-1insTAGTTGGATTCACACGCTCAGCAGC
NM_001256307.2:c.136-2_136-1insTAGTTGGATTCACACGCTCAGCAGC NP_001243236.1:n.136-2_136-1insTAGTTGGATTCACACGCTCAGCAGC