Canonical Allele Identifier: CA2695217224

Gene: PAH

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.102843688del , CM000674.2:g.102843688del	GRCh38
NC_000012.11:g.103237466del , CM000674.1:g.103237466del	GRCh37
NC_000012.10:g.101761596del	NCBI36
NG_008690.1:g.78915del
NG_008690.2:g.119723del

Transcript Alleles

HGVS	Amino-acid change
ENST00000553106.6:c.1157del MANE Select	ENSP00000448059.1:p.Tyr386PhefsTer14
ENST00000307000.7:c.1142del	ENSP00000303500.2:p.Tyr381PhefsTer14
ENST00000549247.6:n.916del
ENST00000551114.2:n.819del
ENST00000553106.5:c.1157del	ENSP00000448059.1:p.Tyr386PhefsTer14
ENST00000635477.1:c.261del
ENST00000635528.1:n.672del
NM_000277.1:c.1157del	NP_000268.1:p.Tyr386PhefsTer14
XM_011538422.1:c.1100del	XP_011536724.1:p.Tyr367PhefsTer14
NM_000277.2:c.1157del	NP_000268.1:p.Tyr386PhefsTer14
NM_001354304.1:c.1157del	NP_001341233.1:p.Tyr386PhefsTer14
NM_000277.3:c.1157del MANE Select	NP_000268.1:p.Tyr386PhefsTer14
NM_001354304.2:c.1157del	NP_001341233.1:p.Tyr386PhefsTer14