Canonical Allele Identifier: CA3267343375
Community Standard Title: NC_000012.12:g.102852829_102855232dup
Gene: PAH HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102852829_102855232dup , CM000674.2:g.102852829_102855232dup GRCh38
NC_000012.11:g.103246607_103249010dup , CM000674.1:g.103246607_103249010dup GRCh37
NC_000012.10:g.101770737_101773140dup NCBI36
NG_008690.2:g.108182_110585dup

Transcript Alleles

HGVS Amino-acid Change
NM_000277.2:c.613_831dup
NM_000277.3:c.613_831dup
NM_001354304.1:c.613_831dup
NM_001354304.2:c.613_831dup
ENST00000307000.7:c.598_816dup
ENST00000553106.5:c.613_831dup
ENST00000553106.6:c.613_831dup
XM_011538422.1:c.613_831dup