Canonical Allele Identifier: CA2059446040
Gene: PAH HGNC NCBI

Linked Data

dbSNP Id: rs1874674290
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102843481_102843482del , CM000674.2:g.102843481_102843482del GRCh38
NC_000012.11:g.103237259_103237260del , CM000674.1:g.103237259_103237260del GRCh37
NC_000012.10:g.101761389_101761390del NCBI36
NG_008690.1:g.79122_79123del
NG_008690.2:g.119930_119931del

Transcript Alleles

HGVS Amino-acid Change
ENST00000553106.6:c.1199+165_1199+166del MANE Select ENSP00000448059.1:n.1199+165_1199+166del
ENST00000307000.7:c.1184+165_1184+166del ENSP00000303500.2:n.1184+165_1184+166del
ENST00000549247.6:n.958+165_958+166del
ENST00000551114.2:n.861+165_861+166del
ENST00000553106.5:c.1199+165_1199+166del ENSP00000448059.1:n.1199+165_1199+166del
ENST00000635477.1:c.303+165_303+166del
ENST00000635528.1:n.714+165_714+166del
NM_000277.1:c.1199+165_1199+166del NP_000268.1:n.1199+165_1199+166del
XM_011538422.1:c.1142+165_1142+166del XP_011536724.1:n.1142+165_1142+166del
NM_000277.2:c.1199+165_1199+166del NP_000268.1:n.1199+165_1199+166del
NM_001354304.1:c.1199+165_1199+166del NP_001341233.1:n.1199+165_1199+166del
NM_000277.3:c.1199+165_1199+166del MANE Select NP_000268.1:n.1199+165_1199+166del
NM_001354304.2:c.1199+165_1199+166del NP_001341233.1:n.1199+165_1199+166del
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