Canonical Allele Identifier: CA16020994
Gene: PAH HGNC NCBI

Linked Data

ClinVar Variation Id: 555797
ClinVar RCV Id: RCV000671688
dbSNP Id: rs1334974448

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102840399_102840404del , CM000674.2:g.102840399_102840404del GRCh38
NC_000012.11:g.103234177_103234182del , CM000674.1:g.103234177_103234182del GRCh37
NC_000012.10:g.101758307_101758312del NCBI36
NG_008690.1:g.82202_82207del
NG_008690.2:g.123010_123015del

Transcript Alleles

HGVS Amino-acid change
ENST00000553106.6:c.1314_1315+4del
ENST00000307000.7:c.1299_1300+4del
ENST00000551114.2:n.976_977+4del
ENST00000553106.5:c.1314_1315+4del
ENST00000635477.1:n.418_419+4del
ENST00000635528.1:n.829_830+4del
NM_000277.1:c.1314_1315+4del
XM_011538422.1:c.1257_1258+4del
NM_000277.2:c.1314_1315+4del
NM_001354304.1:c.1314_1315+4del
NM_000277.3:c.1314_1315+4del
NM_001354304.2:c.1314_1315+4del