Canonical Allele Identifier: CA2059441524
Gene: PAH HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102840420_102840422delinsATC , CM000674.2:g.102840420_102840422delinsATC GRCh38
NC_000012.11:g.103234198_103234200delinsATC , CM000674.1:g.103234198_103234200delinsATC GRCh37
NC_000012.10:g.101758328_101758330delinsATC NCBI36
NG_008690.1:g.82181_82183delinsGAT
NG_008690.2:g.122989_122991delinsGAT

Transcript Alleles

HGVS Amino-acid change
ENST00000553106.6:c.1293_1295delinsGAT MANE Select ENSP00000448059.1:p.Lys431=
ENST00000307000.7:c.1278_1280delinsGAT ENSP00000303500.2:p.Lys426=
ENST00000551114.2:n.955_957delinsGAT
ENST00000553106.5:c.1293_1295delinsGAT ENSP00000448059.1:p.Lys431=
ENST00000635477.1:c.397_399delinsGAT
ENST00000635528.1:n.808_810delinsGAT
NM_000277.1:c.1293_1295delinsGAT NP_000268.1:p.Lys431=
XM_011538422.1:c.1236_1238delinsGAT XP_011536724.1:p.Lys412=
NM_000277.2:c.1293_1295delinsGAT NP_000268.1:p.Lys431=
NM_001354304.1:c.1293_1295delinsGAT NP_001341233.1:p.Lys431=
NM_000277.3:c.1293_1295delinsGAT MANE Select NP_000268.1:p.Lys431=
NM_001354304.2:c.1293_1295delinsGAT NP_001341233.1:p.Lys431=
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