Canonical Allele Identifier: CA2695217167

Gene: PAH

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.102894841del , CM000674.2:g.102894841del	GRCh38
NC_000012.11:g.103288619del , CM000674.1:g.103288619del	GRCh37
NC_000012.10:g.101812749del	NCBI36
NG_008690.1:g.27764del
NG_008690.2:g.68572del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000553106.6:c.248del MANE Select	ENSP00000448059.1:p.Leu83TrpfsTer9
ENST00000307000.7:c.233del	ENSP00000303500.2:p.Leu78TrpfsTer9
ENST00000546844.1:c.248del	ENSP00000446658.1:p.Leu83TrpfsTer9
ENST00000548677.2:n.335del
ENST00000548928.1:n.170del
ENST00000549111.5:n.344del
ENST00000550978.6:c.232del
ENST00000551337.5:c.248del	ENSP00000447620.1:p.Leu83TrpfsTer9
ENST00000551988.5:n.337del
ENST00000553106.5:c.248del	ENSP00000448059.1:p.Leu83TrpfsTer9
NM_000277.1:c.248del	NP_000268.1:p.Leu83TrpfsTer9
XM_011538422.1:c.248del	XP_011536724.1:p.Leu83TrpfsTer9
NM_000277.2:c.248del	NP_000268.1:p.Leu83TrpfsTer9
NM_001354304.1:c.248del	NP_001341233.1:p.Leu83TrpfsTer9
XM_017019370.2:c.248del	XP_016874859.1:p.Leu83TrpfsTer9
NM_000277.3:c.248del MANE Select	NP_000268.1:p.Leu83TrpfsTer9
NM_001354304.2:c.248del	NP_001341233.1:p.Leu83TrpfsTer9