Canonical Allele Identifier: CA891862634

Gene: PAH

Linked Data

• ClinVar Variation Id: 805802
• ClinVar RCV Id: RCV000993597
• dbSNP Id: rs1592991184
• ERepo: CA891862634/MONDO:0009861/006

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.102917083_102917084insAG , CM000674.2:g.102917083_102917084insAG	GRCh38
NC_000012.11:g.103310861_103310862insAG , CM000674.1:g.103310861_103310862insAG	GRCh37
NC_000012.10:g.101834991_101834992insAG	NCBI36
NG_008690.1:g.5519_5520insCT
NG_008690.2:g.46327_46328insCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000553106.6:c.47_48insCT MANE Select	ENSP00000448059.1:p.Asp17LeufsTer22
ENST00000307000.7:c.-101_-100insCT	ENSP00000303500.2:n.-101_-100insCT
ENST00000546844.1:c.47_48insCT	ENSP00000446658.1:p.Asp17LeufsTer22
ENST00000547319.1:n.358_359insCT
ENST00000549111.5:n.143_144insCT
ENST00000550978.6:c.31_32insCT
ENST00000551337.5:c.47_48insCT	ENSP00000447620.1:p.Asp17LeufsTer22
ENST00000551988.5:n.136_137insCT
ENST00000553106.5:c.47_48insCT	ENSP00000448059.1:p.Asp17LeufsTer22
ENST00000635500.1:n.29-4186_29-4185insCT
NM_000277.1:c.47_48insCT	NP_000268.1:p.Asp17LeufsTer22
XM_011538422.1:c.47_48insCT	XP_011536724.1:p.Asp17LeufsTer22
NM_000277.2:c.47_48insCT	NP_000268.1:p.Asp17LeufsTer22
NM_001354304.1:c.47_48insCT	NP_001341233.1:p.Asp17LeufsTer22
XM_017019370.2:c.47_48insCT	XP_016874859.1:p.Asp17LeufsTer22
NM_000277.3:c.47_48insCT MANE Select	NP_000268.1:p.Asp17LeufsTer22
NM_001354304.2:c.47_48insCT	NP_001341233.1:p.Asp17LeufsTer22