Canonical Allele Identifier: CA791221690

Gene: HPGD

Linked Data

• dbSNP Id: rs1475985642
• MyVariant Identifiers: chr4:g.175414305_175414306insTT (hg19) ; chr4:g.174493154_174493155insTT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.174493154_174493155insTT , CM000666.2:g.174493154_174493155insTT	GRCh38
NC_000004.11:g.175414305_175414306insTT , CM000666.1:g.175414305_175414306insTT	GRCh37
NC_000004.10:g.175650880_175650881insTT	NCBI36
NG_011689.1:g.34487_34488insAA

Transcript Alleles

HGVS	Amino-acid change
ENST00000296522.11:c.658_659insAA MANE Select	ENSP00000296522.6:p.Leu220Ter
ENST00000296521.11:c.499-1061_499-1060insAA	ENSP00000296521.7:n.499-1061_499-1060insA...
ENST00000296522.10:c.658_659insAA	ENSP00000296522.6:p.Leu220Ter
ENST00000422112.6:c.454_455insAA	ENSP00000398720.2:p.Leu152Ter
ENST00000506910.5:c.295_296insAA	ENSP00000423066.1:p.Leu99Ter
ENST00000508330.5:c.*287_*288insAA	ENSP00000425741.1:n.*287_*288insAA
ENST00000509512.1:n.307_308insAA
ENST00000510835.5:c.*420_*421insAA	ENSP00000427699.1:n.*420_*421insAA
ENST00000510901.5:c.295_296insAA	ENSP00000422418.1:p.Leu99Ter
ENST00000511499.5:n.442_443insAA
ENST00000541923.5:c.295_296insAA	ENSP00000438017.1:p.Leu99Ter
ENST00000542498.5:c.422-1061_422-1060insAA	ENSP00000443644.1:n.422-1061_422-1060insA...
NM_000860.5:c.658_659insAA	NP_000851.2:p.Leu220Ter
NM_001145816.2:c.499-1061_499-1060insAA	NP_001139288.1:n.499-1061_499-1060insAA
NM_001256301.1:c.295_296insAA	NP_001243230.1:p.Leu99Ter
NM_001256305.1:c.422-1061_422-1060insAA	NP_001243234.1:n.422-1061_422-1060insAA
NM_001256306.1:c.454_455insAA	NP_001243235.1:p.Leu152Ter
NM_001256307.1:c.295_296insAA	NP_001243236.1:p.Leu99Ter
NM_000860.6:c.658_659insAA MANE Select	NP_000851.2:p.Leu220Ter
NM_001145816.3:c.499-1061_499-1060insAA	NP_001139288.1:n.499-1061_499-1060insAA
NM_001256305.2:c.422-1061_422-1060insAA	NP_001243234.1:n.422-1061_422-1060insAA
NM_001256306.2:c.454_455insAA	NP_001243235.1:p.Leu152Ter
NM_001256307.2:c.295_296insAA	NP_001243236.1:p.Leu99Ter