Canonical Allele Identifier: CA2059445841
Gene: PAH HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102843298_102843299delinsAG , CM000674.2:g.102843298_102843299delinsAG GRCh38
NC_000012.11:g.103237076_103237077delinsAG , CM000674.1:g.103237076_103237077delinsAG GRCh37
NC_000012.10:g.101761206_101761207delinsAG NCBI36
NG_008690.1:g.79304_79305delinsCT
NG_008690.2:g.120112_120113delinsCT

Transcript Alleles

HGVS Amino-acid Change
ENST00000553106.6:c.1199+347_1199+348delinsCT MANE Select ENSP00000448059.1:n.1199+347_1199+348delinsCT
ENST00000307000.7:c.1184+347_1184+348delinsCT ENSP00000303500.2:n.1184+347_1184+348delinsCT
ENST00000549247.6:n.958+347_958+348delinsCT
ENST00000551114.2:n.861+347_861+348delinsCT
ENST00000553106.5:c.1199+347_1199+348delinsCT ENSP00000448059.1:n.1199+347_1199+348delinsCT
ENST00000635477.1:c.303+347_303+348delinsCT
ENST00000635528.1:n.714+347_714+348delinsCT
NM_000277.1:c.1199+347_1199+348delinsCT NP_000268.1:n.1199+347_1199+348delinsCT
XM_011538422.1:c.1142+347_1142+348delinsCT XP_011536724.1:n.1142+347_1142+348delinsCT
NM_000277.2:c.1199+347_1199+348delinsCT NP_000268.1:n.1199+347_1199+348delinsCT
NM_001354304.1:c.1199+347_1199+348delinsCT NP_001341233.1:n.1199+347_1199+348delinsCT
NM_000277.3:c.1199+347_1199+348delinsCT MANE Select NP_000268.1:n.1199+347_1199+348delinsCT
NM_001354304.2:c.1199+347_1199+348delinsCT NP_001341233.1:n.1199+347_1199+348delinsCT
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