Canonical Allele Identifier: CA2059446277
Gene: PAH HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102843645_102843649delinsCCTTA , CM000674.2:g.102843645_102843649delinsCCTTA GRCh38
NC_000012.11:g.103237423_103237427delinsCCTTA , CM000674.1:g.103237423_103237427delinsCCTTA GRCh37
NC_000012.10:g.101761553_101761557delinsCCTTA NCBI36
NG_008690.1:g.78954_78958delinsTAAGG
NG_008690.2:g.119762_119766delinsTAAGG

Transcript Alleles

HGVS Amino-acid change
ENST00000553106.6:c.1196_1199+1delinsTAAGG
ENST00000307000.7:c.1181_1184+1delinsTAAGG
ENST00000549247.6:n.955_958+1delinsTAAGG
ENST00000551114.2:n.858_861+1delinsTAAGG
ENST00000553106.5:c.1196_1199+1delinsTAAGG
ENST00000635477.1:c.300_303+1delinsTAAGG
ENST00000635528.1:n.711_714+1delinsTAAGG
NM_000277.1:c.1196_1199+1delinsTAAGG
XM_011538422.1:c.1139_1142+1delinsTAAGG
NM_000277.2:c.1196_1199+1delinsTAAGG
NM_001354304.1:c.1196_1199+1delinsTAAGG
NM_000277.3:c.1196_1199+1delinsTAAGG
NM_001354304.2:c.1196_1199+1delinsTAAGG
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