Canonical Allele Identifier: CA229552
Gene: PAH HGNC NCBI

Linked Data

ClinVar Variation Id: 102681
dbSNP Id: rs199475649

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102866596_102866663del , CM000674.2:g.102866596_102866663del GRCh38
NC_000012.11:g.103260374_103260441del , CM000674.1:g.103260374_103260441del GRCh37
NC_000012.10:g.101784504_101784571del NCBI36
NG_008690.1:g.55941_56008del
NG_008690.2:g.96749_96816del

Transcript Alleles

HGVS Amino-acid change
ENST00000553106.6:c.443_509+1del
ENST00000307000.7:c.428_494+1del
ENST00000549111.5:n.539_605+1del
ENST00000551988.5:n.530+10800_530+10867del
ENST00000553106.5:c.443_509+1del
NM_000277.1:c.443_509+1del
XM_011538422.1:c.443_509+1del
NM_000277.2:c.443_509+1del
NM_001354304.1:c.443_509+1del
XM_017019370.2:c.443_509+1del
NM_000277.3:c.443_509+1del
NM_001354304.2:c.443_509+1del