Canonical Allele Identifier: CA912973343

Gene: PAH

Linked Data

• MyVariant Identifiers: chr12:g.103306610_103306613del (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.102912832_102912835del , CM000674.2:g.102912832_102912835del	GRCh38
NC_000012.11:g.103306610_103306613del , CM000674.1:g.103306610_103306613del	GRCh37
NC_000012.10:g.101830740_101830743del	NCBI36
NG_008690.1:g.9770_9773del
NG_008690.2:g.50578_50581del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000553106.6:c.126_129del MANE Select	ENSP00000448059.1:p.Glu43LysfsTer17
ENST00000307000.7:c.111_114del	ENSP00000303500.2:p.Glu38LysfsTer17
ENST00000546844.1:c.126_129del	ENSP00000446658.1:p.Glu43LysfsTer17
ENST00000548677.2:n.213_216del
ENST00000548928.1:n.48_51del
ENST00000549111.5:n.222_225del
ENST00000550978.6:c.110_113del
ENST00000551337.5:c.126_129del	ENSP00000447620.1:p.Glu43LysfsTer17
ENST00000551988.5:n.215_218del
ENST00000553106.5:c.126_129del	ENSP00000448059.1:p.Glu43LysfsTer17
ENST00000635500.1:n.94_97del
NM_000277.1:c.126_129del	NP_000268.1:p.Glu43LysfsTer17
XM_011538422.1:c.126_129del	XP_011536724.1:p.Glu43LysfsTer17
NM_000277.2:c.126_129del	NP_000268.1:p.Glu43LysfsTer17
NM_001354304.1:c.126_129del	NP_001341233.1:p.Glu43LysfsTer17
XM_017019370.2:c.126_129del	XP_016874859.1:p.Glu43LysfsTer17
NM_000277.3:c.126_129del MANE Select	NP_000268.1:p.Glu43LysfsTer17
NM_001354304.2:c.126_129del	NP_001341233.1:p.Glu43LysfsTer17