Canonical Allele Identifier: CA645584082

Gene: PAH

Linked Data

• COSMIC: COSM143497

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.102852820_102852821delinsAA , CM000674.2:g.102852820_102852821delinsAA	GRCh38
NC_000012.11:g.103246598_103246599delinsAA , CM000674.1:g.103246598_103246599delinsAA	GRCh37
NC_000012.10:g.101770728_101770729delinsAA	NCBI36
NG_008690.1:g.69782_69783delinsTT
NG_008690.2:g.110590_110591delinsTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000553106.6:c.836_837delinsTT MANE Select	ENSP00000448059.1:p.Pro279Leu
ENST00000307000.7:c.821_822delinsTT	ENSP00000303500.2:p.Pro274Leu
ENST00000549247.6:n.595_596delinsTT
ENST00000553106.5:c.836_837delinsTT	ENSP00000448059.1:p.Pro279Leu
NM_000277.1:c.836_837delinsTT	NP_000268.1:p.Pro279Leu
XM_011538422.1:c.836_837delinsTT	XP_011536724.1:p.Pro279Leu
NM_000277.2:c.836_837delinsTT	NP_000268.1:p.Pro279Leu
NM_001354304.1:c.836_837delinsTT	NP_001341233.1:p.Pro279Leu
NM_000277.3:c.836_837delinsTT MANE Select	NP_000268.1:p.Pro279Leu
NM_001354304.2:c.836_837delinsTT	NP_001341233.1:p.Pro279Leu