Canonical Allele Identifier: CA3267343374
Community Standard Title: NC_000012.12:g.102852828_102855154dup
Gene: PAH HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102852828_102855154dup , CM000674.2:g.102852828_102855154dup GRCh38
NC_000012.11:g.103246606_103248932dup , CM000674.1:g.103246606_103248932dup GRCh37
NC_000012.10:g.101770736_101773062dup NCBI36
NG_008690.2:g.108257_110583dup

Transcript Alleles

HGVS Amino-acid Change
NM_000277.2:c.688_829dup
NM_000277.3:c.688_829dup
NM_001354304.1:c.688_829dup
NM_001354304.2:c.688_829dup
ENST00000307000.7:c.673_814dup
ENST00000553106.5:c.688_829dup
ENST00000553106.6:c.688_829dup
XM_011538422.1:c.688_829dup