Canonical Allele Identifier: CA2575275804
Gene: PAH HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102894677_102894679del , CM000674.2:g.102894677_102894679del GRCh38
NC_000012.11:g.103288455_103288457del , CM000674.1:g.103288455_103288457del GRCh37
NC_000012.10:g.101812585_101812587del NCBI36
NG_008690.1:g.27925_27927del
NG_008690.2:g.68733_68735del

Transcript Alleles

HGVS Amino-acid change
ENST00000553106.6:c.352+57_352+59del MANE Select ENSP00000448059.1:n.352+57_352+59del
ENST00000307000.7:c.337+57_337+59del ENSP00000303500.2:n.337+57_337+59del
ENST00000548928.1:n.274+57_274+59del
ENST00000549111.5:n.448+57_448+59del
ENST00000550978.6:c.336+57_336+59del
ENST00000551337.5:c.352+57_352+59del ENSP00000447620.1:n.352+57_352+59del
ENST00000551988.5:n.441+57_441+59del
ENST00000553106.5:c.352+57_352+59del ENSP00000448059.1:n.352+57_352+59del
NM_000277.1:c.352+57_352+59del NP_000268.1:n.352+57_352+59del
XM_011538422.1:c.352+57_352+59del XP_011536724.1:n.352+57_352+59del
NM_000277.2:c.352+57_352+59del NP_000268.1:n.352+57_352+59del
NM_001354304.1:c.352+57_352+59del NP_001341233.1:n.352+57_352+59del
XM_017019370.2:c.352+57_352+59del XP_016874859.1:n.352+57_352+59del
NM_000277.3:c.352+57_352+59del MANE Select NP_000268.1:n.352+57_352+59del
NM_001354304.2:c.352+57_352+59del NP_001341233.1:n.352+57_352+59del
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