Canonical Allele Identifier: CA16020833
Gene: PAH HGNC NCBI

Linked Data

ClinVar Variation Id: 2682169
ClinVar RCV Id: RCV003479542

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102855177_102855353del , CM000674.2:g.102855177_102855353del GRCh38
NC_000012.11:g.103248955_103249131del , CM000674.1:g.103248955_103249131del GRCh37
NC_000012.10:g.101773085_101773261del NCBI36
NG_008690.1:g.67252_67428del
NG_008690.2:g.108060_108236del

Transcript Alleles

HGVS Amino-acid Change
ENST00000553106.6:c.510-19_667del
ENST00000307000.7:c.495-19_652del
ENST00000549111.5:n.606-19_763del
ENST00000553106.5:c.510-19_667del
NM_000277.1:c.510-19_667del
XM_011538422.1:c.510-19_667del
NM_000277.2:c.510-19_667del
NM_001354304.1:c.510-19_667del
XM_017019370.2:c.510-19_667del
NM_000277.3:c.510-19_667del
NM_001354304.2:c.510-19_667del