Canonical Allele Identifier: CA2059473264

Gene: PAH

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.102912793_102912796delinsCAAA , CM000674.2:g.102912793_102912796delinsCAAA	GRCh38
NC_000012.11:g.103306571_103306574delinsCAAA , CM000674.1:g.103306571_103306574delinsCAAA	GRCh37
NC_000012.10:g.101830701_101830704delinsCAAA	NCBI36
NG_008690.1:g.9807_9810delinsTTTG
NG_008690.2:g.50615_50618delinsTTTG

Transcript Alleles

HGVS	Amino-acid change
ENST00000553106.6:c.163_166delinsTTTG MANE Select	ENSP00000448059.1:p.Phe55=
ENST00000307000.7:c.148_151delinsTTTG	ENSP00000303500.2:p.Phe50=
ENST00000546844.1:c.163_166delinsTTTG	ENSP00000446658.1:p.Phe55=
ENST00000548677.2:n.250_253delinsTTTG
ENST00000548928.1:n.85_88delinsTTTG
ENST00000549111.5:n.259_262delinsTTTG
ENST00000550978.6:c.147_150delinsTTTG
ENST00000551337.5:c.163_166delinsTTTG	ENSP00000447620.1:p.Phe55=
ENST00000551988.5:n.252_255delinsTTTG
ENST00000553106.5:c.163_166delinsTTTG	ENSP00000448059.1:p.Phe55=
ENST00000635500.1:n.131_134delinsTTTG
NM_000277.1:c.163_166delinsTTTG	NP_000268.1:p.Phe55=
XM_011538422.1:c.163_166delinsTTTG	XP_011536724.1:p.Phe55=
NM_000277.2:c.163_166delinsTTTG	NP_000268.1:p.Phe55=
NM_001354304.1:c.163_166delinsTTTG	NP_001341233.1:p.Phe55=
XM_017019370.2:c.163_166delinsTTTG	XP_016874859.1:p.Phe55=
NM_000277.3:c.163_166delinsTTTG MANE Select	NP_000268.1:p.Phe55=
NM_001354304.2:c.163_166delinsTTTG	NP_001341233.1:p.Phe55=