Canonical Allele Identifier: CA2059449474
Gene: PAH HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102855231_102855253delinsTAGCAAGCATGGGTTTTATACAA , CM000674.2:g.102855231_102855253delinsTAGCAAGCATGGGTTTTATACAA GRCh38
NC_000012.11:g.103249009_103249031delinsTAGCAAGCATGGGTTTTATACAA , CM000674.1:g.103249009_103249031delinsTAGCAAGCATGGGTTTTATACAA GRCh37
NC_000012.10:g.101773139_101773161delinsTAGCAAGCATGGGTTTTATACAA NCBI36
NG_008690.1:g.67350_67372delinsTTGTATAAAACCCATGCTTGCTA
NG_008690.2:g.108158_108180delinsTTGTATAAAACCCATGCTTGCTA

Transcript Alleles

HGVS Amino-acid change
ENST00000553106.6:c.589_611delinsTTGTATAAAACCCATGCTTGCTA MANE Select ENSP00000448059.1:p.Leu197=
ENST00000307000.7:c.574_596delinsTTGTATAAAACCCATGCTTGCTA ENSP00000303500.2:p.Leu192=
ENST00000549111.5:n.685_707delinsTTGTATAAAACCCATGCTTGCTA
ENST00000553106.5:c.589_611delinsTTGTATAAAACCCATGCTTGCTA ENSP00000448059.1:p.Leu197=
NM_000277.1:c.589_611delinsTTGTATAAAACCCATGCTTGCTA NP_000268.1:p.Leu197=
XM_011538422.1:c.589_611delinsTTGTATAAAACCCATGCTTGCTA XP_011536724.1:p.Leu197=
NM_000277.2:c.589_611delinsTTGTATAAAACCCATGCTTGCTA NP_000268.1:p.Leu197=
NM_001354304.1:c.589_611delinsTTGTATAAAACCCATGCTTGCTA NP_001341233.1:p.Leu197=
XM_017019370.2:c.589_611delinsTTGTATAAAACCCATGCTTGCTA XP_016874859.1:p.Leu197=
NM_000277.3:c.589_611delinsTTGTATAAAACCCATGCTTGCTA MANE Select NP_000268.1:p.Leu197=
NM_001354304.2:c.589_611delinsTTGTATAAAACCCATGCTTGCTA NP_001341233.1:p.Leu197=
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