Canonical Allele Identifier: CA2503264531

Gene: PAH

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.102851455_102851456insTTCCC , CM000674.2:g.102851455_102851456insTTCCC	GRCh38
NC_000012.11:g.103245233_103245234insTTCCC , CM000674.1:g.103245233_103245234insTTCCC	GRCh37
NC_000012.10:g.101769363_101769364insTTCCC	NCBI36
NG_008690.1:g.71147_71148insGGGAA
NG_008690.2:g.111955_111956insGGGAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000553106.6:c.912+231_912+232insGGGAA MANE Select	ENSP00000448059.1:n.912+231_912+232insGGGAA
ENST00000307000.7:c.897+231_897+232insGGGAA	ENSP00000303500.2:n.897+231_897+232insGGGAA
ENST00000549247.6:n.671+231_671+232insGGGAA
ENST00000551114.2:n.574+231_574+232insGGGAA
ENST00000553106.5:c.912+231_912+232insGGGAA	ENSP00000448059.1:n.912+231_912+232insGGGAA
ENST00000635477.1:c.73+231_73+232insGGGAA
NM_000277.1:c.912+231_912+232insGGGAA	NP_000268.1:n.912+231_912+232insGGGAA
XM_011538422.1:c.912+231_912+232insGGGAA	XP_011536724.1:n.912+231_912+232insGGGAA
NM_000277.2:c.912+231_912+232insGGGAA	NP_000268.1:n.912+231_912+232insGGGAA
NM_001354304.1:c.912+231_912+232insGGGAA	NP_001341233.1:n.912+231_912+232insGGGAA
NM_000277.3:c.912+231_912+232insGGGAA MANE Select	NP_000268.1:n.912+231_912+232insGGGAA
NM_001354304.2:c.912+231_912+232insGGGAA	NP_001341233.1:n.912+231_912+232insGGGAA