Canonical Allele Identifier: CA2059443688

Gene: PAH

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.102851175_102851176delinsTG , CM000674.2:g.102851175_102851176delinsTG	GRCh38
NC_000012.11:g.103244953_103244954delinsTG , CM000674.1:g.103244953_103244954delinsTG	GRCh37
NC_000012.10:g.101769083_101769084delinsTG	NCBI36
NG_008690.1:g.71427_71428delinsCA
NG_008690.2:g.112235_112236delinsCA

Transcript Alleles

HGVS	Amino-acid change
ENST00000553106.6:c.912+511_912+512delinsCA MANE Select	ENSP00000448059.1:n.912+511_912+512delins...
ENST00000307000.7:c.897+511_897+512delinsCA	ENSP00000303500.2:n.897+511_897+512delins...
ENST00000549247.6:n.671+511_671+512delinsCA
ENST00000551114.2:n.574+511_574+512delinsCA
ENST00000553106.5:c.912+511_912+512delinsCA	ENSP00000448059.1:n.912+511_912+512delins...
ENST00000635477.1:c.73+511_73+512delinsCA
NM_000277.1:c.912+511_912+512delinsCA	NP_000268.1:n.912+511_912+512delinsCA
XM_011538422.1:c.912+511_912+512delinsCA	XP_011536724.1:n.912+511_912+512delinsCA
NM_000277.2:c.912+511_912+512delinsCA	NP_000268.1:n.912+511_912+512delinsCA
NM_001354304.1:c.912+511_912+512delinsCA	NP_001341233.1:n.912+511_912+512delinsCA
NM_000277.3:c.912+511_912+512delinsCA MANE Select	NP_000268.1:n.912+511_912+512delinsCA
NM_001354304.2:c.912+511_912+512delinsCA	NP_001341233.1:n.912+511_912+512delinsCA