Canonical Allele Identifier: CA2580614530

Gene: PAH

Linked Data

• ClinVar Variation Id: 1725348
• ClinVar RCV Id: RCV002309032

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.102855150_102855151del , CM000674.2:g.102855150_102855151del	GRCh38
NC_000012.11:g.103248928_103248929del , CM000674.1:g.103248928_103248929del	GRCh37
NC_000012.10:g.101773058_101773059del	NCBI36
NG_008690.1:g.67454_67455del
NG_008690.2:g.108262_108263del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000553106.6:c.693_694del MANE Select	ENSP00000448059.1:p.Gln232ValfsTer?
ENST00000307000.7:c.678_679del	ENSP00000303500.2:p.Gln227ValfsTer?
ENST00000549111.5:n.789_790del
ENST00000553106.5:c.693_694del	ENSP00000448059.1:p.Gln232ValfsTer?
NM_000277.1:c.693_694del	NP_000268.1:p.Gln232IlefsTer?
XM_011538422.1:c.693_694del	XP_011536724.1:p.Gln232ValfsTer?
NM_000277.2:c.693_694del	NP_000268.1:p.Gln232ValfsTer?
NM_001354304.1:c.693_694del	NP_001341233.1:p.Gln232ValfsTer?
XM_017019370.2:c.693_694del	XP_016874859.1:p.Gln232ValfsTer11
NM_000277.3:c.693_694del MANE Select	NP_000268.1:p.Gln232ValfsTer?
NM_001354304.2:c.693_694del	NP_001341233.1:p.Gln232ValfsTer?