Canonical Allele Identifier: CA915946685
Gene: PAH HGNC NCBI

Linked Data

ClinVar Variation Id: 802885
ClinVar RCV Id: RCV000988897
dbSNP Id: rs1592947538
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102843774_102843775insAGGGGAGAAGCTTTGGCTTCTCTGATAAG , CM000674.2:g.102843774_102843775insAGGGGAGAAGCTTTGGCTTCTCTGATAAG GRCh38
NC_000012.11:g.103237552_103237553insAGGGGAGAAGCTTTGGCTTCTCTGATAAG , CM000674.1:g.103237552_103237553insAGGGGAGAAGCTTTGGCTTCTCTGATAAG GRCh37
NC_000012.10:g.101761682_101761683insAGGGGAGAAGCTTTGGCTTCTCTGATAAG NCBI36
NG_008690.1:g.78856_78857insTCTTATCAGAGAAGCCAAAGCTTCTCCCC
NG_008690.2:g.119664_119665insTCTTATCAGAGAAGCCAAAGCTTCTCCCC

Transcript Alleles

HGVS Amino-acid Change
ENST00000553106.6:c.1098_1099insTCTTATCAGAGAAGCCAAAGCTTCTCCCC MANE Select ENSP00000448059.1:p.Leu367SerfsTer?
ENST00000307000.7:c.1083_1084insTCTTATCAGAGAAGCCAAAGCTTCTCCCC ENSP00000303500.2:p.Leu362SerfsTer?
ENST00000549247.6:n.857_858insTCTTATCAGAGAAGCCAAAGCTTCTCCCC
ENST00000551114.2:n.760_761insTCTTATCAGAGAAGCCAAAGCTTCTCCCC
ENST00000553106.5:c.1098_1099insTCTTATCAGAGAAGCCAAAGCTTCTCCCC ENSP00000448059.1:p.Leu367SerfsTer?
ENST00000635477.1:c.202_203insTCTTATCAGAGAAGCCAAAGCTTCTCCCC
ENST00000635528.1:n.613_614insTCTTATCAGAGAAGCCAAAGCTTCTCCCC
NM_000277.1:c.1098_1099insTCTTATCAGAGAAGCCAAAGCTTCTCCCC NP_000268.1:p.Leu367SerfsTer?
XM_011538422.1:c.1041_1042insTCTTATCAGAGAAGCCAAAGCTTCTCCCC XP_011536724.1:p.Leu348SerfsTer?
NM_000277.2:c.1098_1099insTCTTATCAGAGAAGCCAAAGCTTCTCCCC NP_000268.1:p.Leu367SerfsTer?
NM_001354304.1:c.1098_1099insTCTTATCAGAGAAGCCAAAGCTTCTCCCC NP_001341233.1:p.Leu367SerfsTer?
NM_000277.3:c.1098_1099insTCTTATCAGAGAAGCCAAAGCTTCTCCCC MANE Select NP_000268.1:p.Leu367SerfsTer?
NM_001354304.2:c.1098_1099insTCTTATCAGAGAAGCCAAAGCTTCTCCCC NP_001341233.1:p.Leu367SerfsTer?
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