Canonical Allele Identifier: CA2059449453
Gene: PAH HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102855229_102855252delinsCATAGCAAGCATGGGTTTTATACA , CM000674.2:g.102855229_102855252delinsCATAGCAAGCATGGGTTTTATACA GRCh38
NC_000012.11:g.103249007_103249030delinsCATAGCAAGCATGGGTTTTATACA , CM000674.1:g.103249007_103249030delinsCATAGCAAGCATGGGTTTTATACA GRCh37
NC_000012.10:g.101773137_101773160delinsCATAGCAAGCATGGGTTTTATACA NCBI36
NG_008690.1:g.67351_67374delinsTGTATAAAACCCATGCTTGCTATG
NG_008690.2:g.108159_108182delinsTGTATAAAACCCATGCTTGCTATG

Transcript Alleles

HGVS Amino-acid change
ENST00000553106.6:c.590_613delinsTGTATAAAACCCATGCTTGCTATG MANE Select ENSP00000448059.1:p.Leu197=
ENST00000307000.7:c.575_598delinsTGTATAAAACCCATGCTTGCTATG ENSP00000303500.2:p.Leu192=
ENST00000549111.5:n.686_709delinsTGTATAAAACCCATGCTTGCTATG
ENST00000553106.5:c.590_613delinsTGTATAAAACCCATGCTTGCTATG ENSP00000448059.1:p.Leu197=
NM_000277.1:c.590_613delinsTGTATAAAACCCATGCTTGCTATG NP_000268.1:p.Leu197=
XM_011538422.1:c.590_613delinsTGTATAAAACCCATGCTTGCTATG XP_011536724.1:p.Leu197=
NM_000277.2:c.590_613delinsTGTATAAAACCCATGCTTGCTATG NP_000268.1:p.Leu197=
NM_001354304.1:c.590_613delinsTGTATAAAACCCATGCTTGCTATG NP_001341233.1:p.Leu197=
XM_017019370.2:c.590_613delinsTGTATAAAACCCATGCTTGCTATG XP_016874859.1:p.Leu197=
NM_000277.3:c.590_613delinsTGTATAAAACCCATGCTTGCTATG MANE Select NP_000268.1:p.Leu197=
NM_001354304.2:c.590_613delinsTGTATAAAACCCATGCTTGCTATG NP_001341233.1:p.Leu197=
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