Canonical Allele Identifier: CA2059448283

Gene: PAH

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.102844376_102844377delinsGC , CM000674.2:g.102844376_102844377delinsGC	GRCh38
NC_000012.11:g.103238154_103238155delinsGC , CM000674.1:g.103238154_103238155delinsGC	GRCh37
NC_000012.10:g.101762284_101762285delinsGC	NCBI36
NG_008690.1:g.78226_78227delinsGC
NG_008690.2:g.119034_119035delinsGC

Transcript Alleles

HGVS	Amino-acid change
ENST00000553106.6:c.1024_1025delinsGC MANE Select	ENSP00000448059.1:p.Ala342=
ENST00000307000.7:c.1009_1010delinsGC	ENSP00000303500.2:p.Ala337=
ENST00000549247.6:n.783_784delinsGC
ENST00000551114.2:n.686_687delinsGC
ENST00000553106.5:c.1024_1025delinsGC	ENSP00000448059.1:p.Ala342=
ENST00000635477.1:c.128_129delinsGC
ENST00000635528.1:n.539_540delinsGC
NM_000277.1:c.1024_1025delinsGC	NP_000268.1:p.Ala342=
XM_011538422.1:c.967_968delinsGC	XP_011536724.1:p.Ala323=
NM_000277.2:c.1024_1025delinsGC	NP_000268.1:p.Ala342=
NM_001354304.1:c.1024_1025delinsGC	NP_001341233.1:p.Ala342=
NM_000277.3:c.1024_1025delinsGC MANE Select	NP_000268.1:p.Ala342=
NM_001354304.2:c.1024_1025delinsGC	NP_001341233.1:p.Ala342=