Canonical Allele Identifier: CA2797243144
Community Standard Title: NM_000277.3(PAH):c.1199+142_1199+143del
Gene: PAH HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102843504_102843505del , CM000674.2:g.102843504_102843505del GRCh38
NC_000012.11:g.103237282_103237283del , CM000674.1:g.103237282_103237283del GRCh37
NC_000012.10:g.101761412_101761413del NCBI36
NG_008690.1:g.79099_79100del
NG_008690.2:g.119907_119908del

Transcript Alleles

HGVS Amino-acid Change
NM_000277.3:c.1199+142_1199+143del MANE Select NP_000268.1:n.1199+142_1199+143del
ENST00000553106.6:c.1199+142_1199+143del MANE Select ENSP00000448059.1:n.1199+142_1199+143del
NM_000277.1:c.1199+142_1199+143del NP_000268.1:n.1199+142_1199+143del
NM_000277.2:c.1199+142_1199+143del NP_000268.1:n.1199+142_1199+143del
NM_001354304.1:c.1199+142_1199+143del NP_001341233.1:n.1199+142_1199+143del
NM_001354304.2:c.1199+142_1199+143del NP_001341233.1:n.1199+142_1199+143del
ENST00000307000.7:c.1184+142_1184+143del ENSP00000303500.2:n.1184+142_1184+143del
ENST00000549247.6:n.958+142_958+143del
ENST00000551114.2:n.861+142_861+143del
ENST00000553106.5:c.1199+142_1199+143del ENSP00000448059.1:n.1199+142_1199+143del
ENST00000635477.1:c.303+142_303+143del
ENST00000635528.1:n.714+142_714+143del
XM_011538422.1:c.1142+142_1142+143del XP_011536724.1:n.1142+142_1142+143del
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