Canonical Allele Identifier: CA658656325
Gene: PAH HGNC NCBI

Linked Data

ClinVar Variation Id: 458079
ClinVar RCV Id: RCV000550204

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102854491_102855291del , CM000674.2:g.102854491_102855291del GRCh38
NC_000012.11:g.103248269_103249069del , CM000674.1:g.103248269_103249069del GRCh37
NC_000012.10:g.101772399_101773199del NCBI36
NG_008690.2:g.108122_108922del

Transcript Alleles

HGVS Amino-acid change
ENST00000553106.6:c.553_706+647del
ENST00000307000.7:c.538_691+647del
ENST00000553106.5:c.553_706+647del
XM_011538422.1:c.553_706+647del
NM_000277.2:c.553_706+647del
NM_001354304.1:c.553_706+647del
XM_017019370.2:c.553_*296del
NM_000277.3:c.553_706+647del
NM_001354304.2:c.553_706+647del