Canonical Allele Identifier: CA2695199173

Gene: PAH

Linked Data

• ClinVar Variation Id: 2677437
• ClinVar RCV Id: RCV003471654

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.102894831del , CM000674.2:g.102894831del	GRCh38
NC_000012.11:g.103288609del , CM000674.1:g.103288609del	GRCh37
NC_000012.10:g.101812739del	NCBI36
NG_008690.1:g.27772del
NG_008690.2:g.68580del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000553106.6:c.256del MANE Select	ENSP00000448059.1:p.Arg86ValfsTer6
ENST00000307000.7:c.241del	ENSP00000303500.2:p.Arg81ValfsTer6
ENST00000546844.1:c.256del	ENSP00000446658.1:p.Arg86ValfsTer6
ENST00000548677.2:n.343del
ENST00000548928.1:n.178del
ENST00000549111.5:n.352del
ENST00000550978.6:c.240del
ENST00000551337.5:c.256del	ENSP00000447620.1:p.Arg86ValfsTer6
ENST00000551988.5:n.345del
ENST00000553106.5:c.256del	ENSP00000448059.1:p.Arg86ValfsTer6
NM_000277.1:c.256del	NP_000268.1:p.Arg86ValfsTer6
XM_011538422.1:c.256del	XP_011536724.1:p.Arg86ValfsTer6
NM_000277.2:c.256del	NP_000268.1:p.Arg86ValfsTer6
NM_001354304.1:c.256del	NP_001341233.1:p.Arg86ValfsTer6
XM_017019370.2:c.256del	XP_016874859.1:p.Arg86ValfsTer6
NM_000277.3:c.256del MANE Select	NP_000268.1:p.Arg86ValfsTer6
NM_001354304.2:c.256del	NP_001341233.1:p.Arg86ValfsTer6