Canonical Allele Identifier: CA3256691891
Community Standard Title: NM_000277.3(PAH):c.1199+79_1199+80insTC
Gene: PAH HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102843566_102843567insGA , CM000674.2:g.102843566_102843567insGA GRCh38
NC_000012.11:g.103237344_103237345insGA , CM000674.1:g.103237344_103237345insGA GRCh37
NC_000012.10:g.101761474_101761475insGA NCBI36
NG_008690.1:g.79036_79037insTC
NG_008690.2:g.119844_119845insTC

Transcript Alleles

HGVS Amino-acid Change
NM_000277.3:c.1199+79_1199+80insTC MANE Select NP_000268.1:n.1199+79_1199+80insTC
ENST00000553106.6:c.1199+79_1199+80insTC MANE Select ENSP00000448059.1:n.1199+79_1199+80insTC
NM_000277.1:c.1199+79_1199+80insTC NP_000268.1:n.1199+79_1199+80insTC
NM_000277.2:c.1199+79_1199+80insTC NP_000268.1:n.1199+79_1199+80insTC
NM_001354304.1:c.1199+79_1199+80insTC NP_001341233.1:n.1199+79_1199+80insTC
NM_001354304.2:c.1199+79_1199+80insTC NP_001341233.1:n.1199+79_1199+80insTC
ENST00000307000.7:c.1184+79_1184+80insTC ENSP00000303500.2:n.1184+79_1184+80insTC
ENST00000549247.6:n.958+79_958+80insTC
ENST00000551114.2:n.861+79_861+80insTC
ENST00000553106.5:c.1199+79_1199+80insTC ENSP00000448059.1:n.1199+79_1199+80insTC
ENST00000635477.1:c.303+79_303+80insTC
ENST00000635528.1:n.714+79_714+80insTC
XM_011538422.1:c.1142+79_1142+80insTC XP_011536724.1:n.1142+79_1142+80insTC
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