Canonical Allele Identifier: CA3267343361
Community Standard Title: NC_000012.12:g.102852024_102855204dup
Gene: PAH HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102852024_102855204dup , CM000674.2:g.102852024_102855204dup GRCh38
NC_000012.11:g.103245802_103248982dup , CM000674.1:g.103245802_103248982dup GRCh37
NC_000012.10:g.101769932_101773112dup NCBI36
NG_008690.2:g.108207_111387dup

Transcript Alleles

HGVS Amino-acid Change
NM_000277.2:c.638_843-268dup
NM_000277.3:c.638_843-268dup
NM_001354304.1:c.638_843-268dup
NM_001354304.2:c.638_843-268dup
ENST00000307000.7:c.623_828-268dup
ENST00000553106.5:c.638_843-268dup
ENST00000553106.6:c.638_843-268dup
XM_011538422.1:c.638_843-268dup