Canonical Allele Identifier: CA16021001
Gene: PAH HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102846895_102846951dup , CM000674.2:g.102846895_102846951dup GRCh38
NC_000012.11:g.103240673_103240729dup , CM000674.1:g.103240673_103240729dup GRCh37
NC_000012.10:g.101764803_101764859dup NCBI36
NG_008690.1:g.75653_75709dup
NG_008690.2:g.116461_116517dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000553106.6:c.914_969+1dup
ENST00000307000.7:c.899_954+1dup
ENST00000549247.6:n.673_728+1dup
ENST00000551114.2:n.576_631+1dup
ENST00000553106.5:c.914_969+1dup
ENST00000635477.1:c.74-2519_74-2463dup
ENST00000635528.1:n.429_484+1dup
NM_000277.1:c.914_969+1dup
XM_011538422.1:c.913-2519_913-2463dup XP_011536724.1:n.913-2519_913-2463dup
NM_000277.2:c.914_969+1dup
NM_001354304.1:c.914_969+1dup
NM_000277.3:c.914_969+1dup
NM_001354304.2:c.914_969+1dup