Canonical Allele Identifier: CA2575281445
Gene: PAH HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102877562_102877565del , CM000674.2:g.102877562_102877565del GRCh38
NC_000012.11:g.103271340_103271343del , CM000674.1:g.103271340_103271343del GRCh37
NC_000012.10:g.101795470_101795473del NCBI36
NG_008690.1:g.45038_45041del
NG_008690.2:g.85846_85849del

Transcript Alleles

HGVS Amino-acid change
ENST00000553106.6:c.353-15_353-12del MANE Select ENSP00000448059.1:n.353-15_353-12del
ENST00000307000.7:c.338-15_338-12del ENSP00000303500.2:n.338-15_338-12del
ENST00000549111.5:n.449-15_449-12del
ENST00000550978.6:c.337-15_337-12del
ENST00000551337.5:c.353-15_353-12del ENSP00000447620.1:n.353-15_353-12del
ENST00000551988.5:n.442-15_442-12del
ENST00000553106.5:c.353-15_353-12del ENSP00000448059.1:n.353-15_353-12del
NM_000277.1:c.353-15_353-12del NP_000268.1:n.353-15_353-12del
XM_011538422.1:c.353-15_353-12del XP_011536724.1:n.353-15_353-12del
NM_000277.2:c.353-15_353-12del NP_000268.1:n.353-15_353-12del
NM_001354304.1:c.353-15_353-12del NP_001341233.1:n.353-15_353-12del
XM_017019370.2:c.353-15_353-12del XP_016874859.1:n.353-15_353-12del
NM_000277.3:c.353-15_353-12del MANE Select NP_000268.1:n.353-15_353-12del
NM_001354304.2:c.353-15_353-12del NP_001341233.1:n.353-15_353-12del
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