Canonical Allele Identifier: CA3267343371
Community Standard Title: NC_000012.12:g.102852819_102855154dup
Gene: PAH HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102852819_102855154dup , CM000674.2:g.102852819_102855154dup GRCh38
NC_000012.11:g.103246597_103248932dup , CM000674.1:g.103246597_103248932dup GRCh37
NC_000012.10:g.101770727_101773062dup NCBI36
NG_008690.2:g.108257_110592dup

Transcript Alleles

HGVS Amino-acid Change
NM_000277.2:c.688_838dup
NM_000277.3:c.688_838dup
NM_001354304.1:c.688_838dup
NM_001354304.2:c.688_838dup
ENST00000307000.7:c.673_823dup
ENST00000553106.5:c.688_838dup
ENST00000553106.6:c.688_838dup
XM_011538422.1:c.688_838dup