Canonical Allele Identifier: CA251545
Gene: PAH HGNC NCBI

Linked Data

ClinVar Variation Id: 1327563
ClinVar RCV Id: RCV001789825

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102843648_102846953del , CM000674.2:g.102843648_102846953del GRCh38
NC_000012.11:g.103237426_103240731del , CM000674.1:g.103237426_103240731del GRCh37
NC_000012.10:g.101761556_101764861del NCBI36
NG_008690.2:g.116461_119766del

Transcript Alleles

HGVS Amino-acid change
ENST00000553106.6:c.914_1199+1del
ENST00000307000.7:c.899_1184+1del
ENST00000549247.6:n.673_958+1del
ENST00000551114.2:n.576_861+1del
ENST00000553106.5:c.914_1199+1del
ENST00000635477.1:c.74-2519_303+1del
ENST00000635528.1:n.429_714+1del
XM_011538422.1:c.913-2519_1142+1del
NM_000277.2:c.914_1199+1del
NM_001354304.1:c.914_1199+1del
NM_000277.3:c.914_1199+1del
NM_001354304.2:c.914_1199+1del