Canonical Allele Identifier: CA2580085705
Gene: PAH HGNC NCBI

Linked Data

ClinVar Variation Id: 2017917
ClinVar RCV Id: RCV002857118

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102854490_102855289delinsATAGGTAAGTA , CM000674.2:g.102854490_102855289delinsATAGGTAAGTA GRCh38
NC_000012.11:g.103248268_103249067delinsATAGGTAAGTA , CM000674.1:g.103248268_103249067delinsATAGGTAAGTA GRCh37
NC_000012.10:g.101772398_101773197delinsATAGGTAAGTA NCBI36
NG_008690.2:g.108122_108921delinsTACTTACCTAT

Transcript Alleles

HGVS Amino-acid Change
ENST00000553106.6:c.553_706+646delinsTACTTACCTAT
ENST00000307000.7:c.538_691+646delinsTACTTACCTAT
ENST00000553106.5:c.553_706+646delinsTACTTACCTAT
XM_011538422.1:c.553_706+646delinsTACTTACCTAT
NM_000277.2:c.553_706+646delinsTACTTACCTAT
NM_001354304.1:c.553_706+646delinsTACTTACCTAT
XM_017019370.2:c.553_*295delinsTACTTACCTAT
NM_000277.3:c.553_706+646delinsTACTTACCTAT
NM_001354304.2:c.553_706+646delinsTACTTACCTAT