Canonical Allele Identifier: CA2059462537
Gene: PAH HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102877599_102877600delinsGC , CM000674.2:g.102877599_102877600delinsGC GRCh38
NC_000012.11:g.103271377_103271378delinsGC , CM000674.1:g.103271377_103271378delinsGC GRCh37
NC_000012.10:g.101795507_101795508delinsGC NCBI36
NG_008690.1:g.45003_45004delinsGC
NG_008690.2:g.85811_85812delinsGC

Transcript Alleles

HGVS Amino-acid Change
ENST00000553106.6:c.353-50_353-49delinsGC MANE Select ENSP00000448059.1:n.353-50_353-49delinsGC
ENST00000307000.7:c.338-50_338-49delinsGC ENSP00000303500.2:n.338-50_338-49delinsGC
ENST00000549111.5:n.449-50_449-49delinsGC
ENST00000550978.6:c.337-50_337-49delinsGC
ENST00000551337.5:c.353-50_353-49delinsGC ENSP00000447620.1:n.353-50_353-49delinsGC
ENST00000551988.5:n.442-50_442-49delinsGC
ENST00000553106.5:c.353-50_353-49delinsGC ENSP00000448059.1:n.353-50_353-49delinsGC
NM_000277.1:c.353-50_353-49delinsGC NP_000268.1:n.353-50_353-49delinsGC
XM_011538422.1:c.353-50_353-49delinsGC XP_011536724.1:n.353-50_353-49delinsGC
NM_000277.2:c.353-50_353-49delinsGC NP_000268.1:n.353-50_353-49delinsGC
NM_001354304.1:c.353-50_353-49delinsGC NP_001341233.1:n.353-50_353-49delinsGC
XM_017019370.2:c.353-50_353-49delinsGC XP_016874859.1:n.353-50_353-49delinsGC
NM_000277.3:c.353-50_353-49delinsGC MANE Select NP_000268.1:n.353-50_353-49delinsGC
NM_001354304.2:c.353-50_353-49delinsGC NP_001341233.1:n.353-50_353-49delinsGC
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