Canonical Allele Identifier: CA2695217178

Gene: PAH

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.102917071_102917072delinsGG , CM000674.2:g.102917071_102917072delinsGG	GRCh38
NC_000012.11:g.103310849_103310850delinsGG , CM000674.1:g.103310849_103310850delinsGG	GRCh37
NC_000012.10:g.101834979_101834980delinsGG	NCBI36
NG_008690.1:g.5531_5532delinsCC
NG_008690.2:g.46339_46340delinsCC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000553106.6:c.59_60delinsCC MANE Select	ENSP00000448059.1:p.Gln20Pro
ENST00000307000.7:c.-89_-88delinsCC	ENSP00000303500.2:n.-89_-88delinsCC
ENST00000546844.1:c.59_60delinsCC	ENSP00000446658.1:p.Gln20Pro
ENST00000547319.1:n.370_371delinsCC
ENST00000549111.5:n.155_156delinsCC
ENST00000550978.6:c.43_44delinsCC
ENST00000551337.5:c.59_60delinsCC	ENSP00000447620.1:p.Gln20Pro
ENST00000551988.5:n.148_149delinsCC
ENST00000553106.5:c.59_60delinsCC	ENSP00000448059.1:p.Gln20Pro
ENST00000635500.1:n.29-4174_29-4173delinsCC
NM_000277.1:c.59_60delinsCC	NP_000268.1:p.Gln20Pro
XM_011538422.1:c.59_60delinsCC	XP_011536724.1:p.Gln20Pro
NM_000277.2:c.59_60delinsCC	NP_000268.1:p.Gln20Pro
NM_001354304.1:c.59_60delinsCC	NP_001341233.1:p.Gln20Pro
XM_017019370.2:c.59_60delinsCC	XP_016874859.1:p.Gln20Pro
NM_000277.3:c.59_60delinsCC MANE Select	NP_000268.1:p.Gln20Pro
NM_001354304.2:c.59_60delinsCC	NP_001341233.1:p.Gln20Pro