Canonical Allele Identifier: CA16020947
Gene: PAH HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102843707_102843708del , CM000674.2:g.102843707_102843708del GRCh38
NC_000012.11:g.103237485_103237486del , CM000674.1:g.103237485_103237486del GRCh37
NC_000012.10:g.101761615_101761616del NCBI36
NG_008690.1:g.78896_78897del
NG_008690.2:g.119704_119705del

Transcript Alleles

HGVS Amino-acid Change
ENST00000553106.6:c.1138_1139del MANE Select ENSP00000448059.1:p.Thr380GlyfsTer13
ENST00000307000.7:c.1123_1124del ENSP00000303500.2:p.Thr375GlyfsTer13
ENST00000549247.6:n.897_898del
ENST00000551114.2:n.800_801del
ENST00000553106.5:c.1138_1139del ENSP00000448059.1:p.Thr380GlyfsTer13
ENST00000635477.1:c.242_243del
ENST00000635528.1:n.653_654del
NM_000277.1:c.1138_1139del NP_000268.1:p.Thr380GlyfsTer13
XM_011538422.1:c.1081_1082del XP_011536724.1:p.Thr361GlyfsTer13
NM_000277.2:c.1138_1139del NP_000268.1:p.Thr380GlyfsTer13
NM_001354304.1:c.1138_1139del NP_001341233.1:p.Thr380GlyfsTer13
NM_000277.3:c.1138_1139del MANE Select NP_000268.1:p.Thr380GlyfsTer13
NM_001354304.2:c.1138_1139del NP_001341233.1:p.Thr380GlyfsTer13
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