Canonical Allele Identifier: CA2695199168

Gene: PAH

Linked Data

• ClinVar Variation Id: 2677438
• ClinVar RCV Id: RCV003471655

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.102844426_102844429del , CM000674.2:g.102844426_102844429del	GRCh38
NC_000012.11:g.103238204_103238207del , CM000674.1:g.103238204_103238207del	GRCh37
NC_000012.10:g.101762334_101762337del	NCBI36
NG_008690.1:g.78175_78178del
NG_008690.2:g.118983_118986del

Transcript Alleles

HGVS	Amino-acid change
ENST00000553106.6:c.973_976del MANE Select	ENSP00000448059.1:p.Tyr325GlyfsTer15
ENST00000307000.7:c.958_961del	ENSP00000303500.2:p.Tyr320GlyfsTer15
ENST00000549247.6:n.732_735del
ENST00000551114.2:n.635_638del
ENST00000553106.5:c.973_976del	ENSP00000448059.1:p.Tyr325GlyfsTer15
ENST00000635477.1:c.77_80del
ENST00000635528.1:n.488_491del
NM_000277.1:c.973_976del	NP_000268.1:p.Tyr325GlyfsTer15
XM_011538422.1:c.916_919del	XP_011536724.1:p.Tyr306GlyfsTer15
NM_000277.2:c.973_976del	NP_000268.1:p.Tyr325GlyfsTer15
NM_001354304.1:c.973_976del	NP_001341233.1:p.Tyr325GlyfsTer15
NM_000277.3:c.973_976del MANE Select	NP_000268.1:p.Tyr325GlyfsTer15
NM_001354304.2:c.973_976del	NP_001341233.1:p.Tyr325GlyfsTer15