Canonical Allele Identifier: CA915946686

Gene: PAH

Linked Data

• ClinVar Variation Id: 659449
• ClinVar RCV Id: RCV000816461
• dbSNP Id: rs1592947582

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.102843777_102843791del , CM000674.2:g.102843777_102843791del	GRCh38
NC_000012.11:g.103237555_103237569del , CM000674.1:g.103237555_103237569del	GRCh37
NC_000012.10:g.101761685_101761699del	NCBI36
NG_008690.1:g.78814_78828del
NG_008690.2:g.119622_119636del

Transcript Alleles

HGVS	Amino-acid change
ENST00000553106.6:c.1066-10_1070del
ENST00000307000.7:c.1051-10_1055del
ENST00000549247.6:n.825-10_829del
ENST00000551114.2:n.728-10_732del
ENST00000553106.5:c.1066-10_1070del
ENST00000635477.1:c.170-10_174del
ENST00000635528.1:n.581-10_585del
NM_000277.1:c.1066-10_1070del
XM_011538422.1:c.1009-10_1013del
NM_000277.2:c.1066-10_1070del
NM_001354304.1:c.1066-10_1070del
NM_000277.3:c.1066-10_1070del
NM_001354304.2:c.1066-10_1070del