Canonical Allele Identifier: CA2059445957
Community Standard Title: NM_000277.3(PAH):c.1199+232_1199+234del
Gene: PAH HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102843416_102843418del , CM000674.2:g.102843416_102843418del GRCh38
NC_000012.11:g.103237194_103237196del , CM000674.1:g.103237194_103237196del GRCh37
NC_000012.10:g.101761324_101761326del NCBI36
NG_008690.1:g.79189_79191del
NG_008690.2:g.119997_119999del

Transcript Alleles

HGVS Amino-acid Change
NM_000277.3:c.1199+232_1199+234del MANE Select NP_000268.1:n.1199+232_1199+234del
ENST00000553106.6:c.1199+232_1199+234del MANE Select ENSP00000448059.1:n.1199+232_1199+234del
NM_000277.1:c.1199+232_1199+234del NP_000268.1:n.1199+232_1199+234del
NM_000277.2:c.1199+232_1199+234del NP_000268.1:n.1199+232_1199+234del
NM_001354304.1:c.1199+232_1199+234del NP_001341233.1:n.1199+232_1199+234del
NM_001354304.2:c.1199+232_1199+234del NP_001341233.1:n.1199+232_1199+234del
ENST00000307000.7:c.1184+232_1184+234del ENSP00000303500.2:n.1184+232_1184+234del
ENST00000549247.6:n.958+232_958+234del
ENST00000551114.2:n.861+232_861+234del
ENST00000553106.5:c.1199+232_1199+234del ENSP00000448059.1:n.1199+232_1199+234del
ENST00000635477.1:c.303+232_303+234del
ENST00000635528.1:n.714+232_714+234del
XM_011538422.1:c.1142+232_1142+234del XP_011536724.1:n.1142+232_1142+234del
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