Canonical Allele Identifier: CA3267343363
Community Standard Title: NC_000012.12:g.102852810_102855316dup
Gene: PAH HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102852810_102855316dup , CM000674.2:g.102852810_102855316dup GRCh38
NC_000012.11:g.103246588_103249094dup , CM000674.1:g.103246588_103249094dup GRCh37
NC_000012.10:g.101770718_101773224dup NCBI36
NG_008690.2:g.108095_110601dup

Transcript Alleles

HGVS Amino-acid Change
NM_000277.2:c.526_842+5dup
NM_000277.3:c.526_842+5dup
NM_001354304.1:c.526_842+5dup
NM_001354304.2:c.526_842+5dup
ENST00000307000.7:c.511_827+5dup
ENST00000553106.5:c.526_842+5dup
ENST00000553106.6:c.526_842+5dup
XM_011538422.1:c.526_842+5dup