Canonical Allele Identifier: CA2672706797

Gene: HPGD

Linked Data

• gnomAD v4: 4-174508629-AG-A

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.174508630del , CM000666.2:g.174508630del	GRCh38
NC_000004.11:g.175429781del , CM000666.1:g.175429781del	GRCh37
NC_000004.10:g.175666356del	NCBI36
NG_011689.1:g.19012del

Transcript Alleles

HGVS	Amino-acid change
ENST00000296522.11:c.421+66del MANE Select	ENSP00000296522.6:n.421+66del
ENST00000296521.11:c.421+66del	ENSP00000296521.7:n.421+66del
ENST00000296522.10:c.421+66del	ENSP00000296522.6:n.421+66del
ENST00000422112.6:c.218-13006del	ENSP00000398720.2:n.218-13006del
ENST00000504433.1:c.421+66del	ENSP00000420892.1:n.421+66del
ENST00000506910.5:c.58+66del	ENSP00000423066.1:n.58+66del
ENST00000508330.5:c.*50+66del	ENSP00000425741.1:n.*50+66del
ENST00000510835.5:c.*183+66del	ENSP00000427699.1:n.*183+66del
ENST00000510901.5:c.58+66del	ENSP00000422418.1:n.58+66del
ENST00000512410.1:n.402+66del
ENST00000514584.5:c.58+66del	ENSP00000423110.1:n.58+66del
ENST00000541923.5:c.58+66del	ENSP00000438017.1:n.58+66del
ENST00000542498.5:c.421+66del	ENSP00000443644.1:n.421+66del
NM_000860.5:c.421+66del	NP_000851.2:n.421+66del
NM_001145816.2:c.421+66del	NP_001139288.1:n.421+66del
NM_001256301.1:c.58+66del	NP_001243230.1:n.58+66del
NM_001256305.1:c.421+66del	NP_001243234.1:n.421+66del
NM_001256306.1:c.218-13006del	NP_001243235.1:n.218-13006del
NM_001256307.1:c.58+66del	NP_001243236.1:n.58+66del
XM_011531907.1:c.421+66del	XP_011530209.1:n.421+66del
XR_938728.1:n.863+66del
NM_001363574.1:c.421+66del	NP_001350503.1:n.421+66del
XR_938728.2:n.458+66del
NM_000860.6:c.421+66del MANE Select	NP_000851.2:n.421+66del
NM_001363574.2:c.421+66del	NP_001350503.1:n.421+66del
NM_001145816.3:c.421+66del	NP_001139288.1:n.421+66del
NM_001256305.2:c.421+66del	NP_001243234.1:n.421+66del
NM_001256306.2:c.218-13006del	NP_001243235.1:n.218-13006del
NM_001256307.2:c.58+66del	NP_001243236.1:n.58+66del