Canonical Allele Identifier: CA2059446859

Gene: PAH

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.102843774_102843789delinsGCAGTACTGTAGGCCC , CM000674.2:g.102843774_102843789delinsGCAGTACTGTAGGCCC	GRCh38
NC_000012.11:g.103237552_103237567delinsGCAGTACTGTAGGCCC , CM000674.1:g.103237552_103237567delinsGCAGTACTGTAGGCCC	GRCh37
NC_000012.10:g.101761682_101761697delinsGCAGTACTGTAGGCCC	NCBI36
NG_008690.1:g.78814_78829delinsGGGCCTACAGTACTGC
NG_008690.2:g.119622_119637delinsGGGCCTACAGTACTGC

Transcript Alleles

HGVS	Amino-acid change
ENST00000553106.6:c.1066-10_1071delinsGGGCCTACAGTACTGC
ENST00000307000.7:c.1051-10_1056delinsGGGCCTACAGTACTGC
ENST00000549247.6:n.825-10_830delinsGGGCCTACAGTACTGC
ENST00000551114.2:n.728-10_733delinsGGGCCTACAGTACTGC
ENST00000553106.5:c.1066-10_1071delinsGGGCCTACAGTACTGC
ENST00000635477.1:c.170-10_175delinsGGGCCTACAGTACTGC
ENST00000635528.1:n.581-10_586delinsGGGCCTACAGTACTGC
NM_000277.1:c.1066-10_1071delinsGGGCCTACAGTACTGC
XM_011538422.1:c.1009-10_1014delinsGGGCCTACAGTACTGC
NM_000277.2:c.1066-10_1071delinsGGGCCTACAGTACTGC
NM_001354304.1:c.1066-10_1071delinsGGGCCTACAGTACTGC
NM_000277.3:c.1066-10_1071delinsGGGCCTACAGTACTGC
NM_001354304.2:c.1066-10_1071delinsGGGCCTACAGTACTGC