Canonical Allele Identifier: CA16020869
Gene: PAH HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102852814_102852816del , CM000674.2:g.102852814_102852816del GRCh38
NC_000012.11:g.103246592_103246594del , CM000674.1:g.103246592_103246594del GRCh37
NC_000012.10:g.101770722_101770724del NCBI36
NG_008690.1:g.69787_69789del
NG_008690.2:g.110595_110597del

Transcript Alleles

HGVS Amino-acid change
ENST00000553106.6:c.841_842+1del
ENST00000307000.7:c.826_827+1del
ENST00000549247.6:n.600_601+1del
ENST00000553106.5:c.841_842+1del
ENST00000635477.1:c.2_3+1del
NM_000277.1:c.841_842+1del
XM_011538422.1:c.841_842+1del
NM_000277.2:c.841_842+1del
NM_001354304.1:c.841_842+1del
NM_000277.3:c.841_842+1del
NM_001354304.2:c.841_842+1del