Canonical Allele Identifier: CA2843248090
Gene: PAH HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102843760_102843761insCAAA , CM000674.2:g.102843760_102843761insCAAA GRCh38
NC_000012.11:g.103237538_103237539insCAAA , CM000674.1:g.103237538_103237539insCAAA GRCh37
NC_000012.10:g.101761668_101761669insCAAA NCBI36
NG_008690.1:g.78842_78843insTTTG
NG_008690.2:g.119650_119651insTTTG

Transcript Alleles

HGVS Amino-acid Change
ENST00000553106.6:c.1084_1085insTTTG MANE Select ENSP00000448059.1:p.Pro362LeufsTer?
ENST00000307000.7:c.1069_1070insTTTG ENSP00000303500.2:p.Pro357LeufsTer?
ENST00000549247.6:n.843_844insTTTG
ENST00000551114.2:n.746_747insTTTG
ENST00000553106.5:c.1084_1085insTTTG ENSP00000448059.1:p.Pro362LeufsTer?
ENST00000635477.1:c.188_189insTTTG
ENST00000635528.1:n.599_600insTTTG
NM_000277.1:c.1084_1085insTTTG NP_000268.1:p.Pro362LeufsTer?
XM_011538422.1:c.1027_1028insTTTG XP_011536724.1:p.Pro343LeufsTer?
NM_000277.2:c.1084_1085insTTTG NP_000268.1:p.Pro362LeufsTer?
NM_001354304.1:c.1084_1085insTTTG NP_001341233.1:p.Pro362LeufsTer?
NM_000277.3:c.1084_1085insTTTG MANE Select NP_000268.1:p.Pro362LeufsTer?
NM_001354304.2:c.1084_1085insTTTG NP_001341233.1:p.Pro362LeufsTer?
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