Canonical Allele Identifier: CA2797243630

Gene: PAH

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.102844413_102844414insACCCAA , CM000674.2:g.102844413_102844414insACCCAA	GRCh38
NC_000012.11:g.103238191_103238192insACCCAA , CM000674.1:g.103238191_103238192insACCCAA	GRCh37
NC_000012.10:g.101762321_101762322insACCCAA	NCBI36
NG_008690.1:g.78189_78190insTTGGGT
NG_008690.2:g.118997_118998insTTGGGT

Transcript Alleles

HGVS	Amino-acid change
ENST00000553106.6:c.987_988insTTGGGT MANE Select	ENSP00000448059.1:p.Val329_Glu330insLeuGly
ENST00000307000.7:c.972_973insTTGGGT	ENSP00000303500.2:p.Val324_Glu325insLeuGly
ENST00000549247.6:n.746_747insTTGGGT
ENST00000551114.2:n.649_650insTTGGGT
ENST00000553106.5:c.987_988insTTGGGT	ENSP00000448059.1:p.Val329_Glu330insLeuGly
ENST00000635477.1:c.91_92insTTGGGT
ENST00000635528.1:n.502_503insTTGGGT
NM_000277.1:c.987_988insTTGGGT	NP_000268.1:p.Val329_Glu330insLeuGly
XM_011538422.1:c.930_931insTTGGGT	XP_011536724.1:p.Val310_Glu311insLeuGly
NM_000277.2:c.987_988insTTGGGT	NP_000268.1:p.Val329_Glu330insLeuGly
NM_001354304.1:c.987_988insTTGGGT	NP_001341233.1:p.Val329_Glu330insLeuGly
NM_000277.3:c.987_988insTTGGGT MANE Select	NP_000268.1:p.Val329_Glu330insLeuGly
NM_001354304.2:c.987_988insTTGGGT	NP_001341233.1:p.Val329_Glu330insLeuGly