Canonical Allele Identifier: CA2059443635

Gene: PAH

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.102851133_102851137delinsTGAGC , CM000674.2:g.102851133_102851137delinsTGAGC	GRCh38
NC_000012.11:g.103244911_103244915delinsTGAGC , CM000674.1:g.103244911_103244915delinsTGAGC	GRCh37
NC_000012.10:g.101769041_101769045delinsTGAGC	NCBI36
NG_008690.1:g.71466_71470delinsGCTCA
NG_008690.2:g.112274_112278delinsGCTCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000553106.6:c.912+550_912+554delinsGCTCA MANE Select	ENSP00000448059.1:n.912+550_912+554delinsGCTCA
ENST00000307000.7:c.897+550_897+554delinsGCTCA	ENSP00000303500.2:n.897+550_897+554delinsGCTCA
ENST00000549247.6:n.671+550_671+554delinsGCTCA
ENST00000551114.2:n.574+550_574+554delinsGCTCA
ENST00000553106.5:c.912+550_912+554delinsGCTCA	ENSP00000448059.1:n.912+550_912+554delinsGCTCA
ENST00000635477.1:c.73+550_73+554delinsGCTCA
NM_000277.1:c.912+550_912+554delinsGCTCA	NP_000268.1:n.912+550_912+554delinsGCTCA
XM_011538422.1:c.912+550_912+554delinsGCTCA	XP_011536724.1:n.912+550_912+554delinsGCTCA
NM_000277.2:c.912+550_912+554delinsGCTCA	NP_000268.1:n.912+550_912+554delinsGCTCA
NM_001354304.1:c.912+550_912+554delinsGCTCA	NP_001341233.1:n.912+550_912+554delinsGCTCA
NM_000277.3:c.912+550_912+554delinsGCTCA MANE Select	NP_000268.1:n.912+550_912+554delinsGCTCA
NM_001354304.2:c.912+550_912+554delinsGCTCA	NP_001341233.1:n.912+550_912+554delinsGCTCA