Canonical Allele Identifier: CA2059443482
Community Standard Title: NM_000277.3(PAH):c.912+583_912+594del
Gene: PAH HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102851093_102851104del , CM000674.2:g.102851093_102851104del GRCh38
NC_000012.11:g.103244871_103244882del , CM000674.1:g.103244871_103244882del GRCh37
NC_000012.10:g.101769001_101769012del NCBI36
NG_008690.1:g.71499_71510del
NG_008690.2:g.112307_112318del

Transcript Alleles

HGVS Amino-acid Change
NM_000277.3:c.912+583_912+594del MANE Select NP_000268.1:n.912+583_912+594del
ENST00000553106.6:c.912+583_912+594del MANE Select ENSP00000448059.1:n.912+583_912+594del
NM_000277.1:c.912+583_912+594del NP_000268.1:n.912+583_912+594del
NM_000277.2:c.912+583_912+594del NP_000268.1:n.912+583_912+594del
NM_001354304.1:c.912+583_912+594del NP_001341233.1:n.912+583_912+594del
NM_001354304.2:c.912+583_912+594del NP_001341233.1:n.912+583_912+594del
ENST00000307000.7:c.897+583_897+594del ENSP00000303500.2:n.897+583_897+594del
ENST00000549247.6:n.671+583_671+594del
ENST00000551114.2:n.574+583_574+594del
ENST00000553106.5:c.912+583_912+594del ENSP00000448059.1:n.912+583_912+594del
ENST00000635477.1:c.73+583_73+594del
XM_011538422.1:c.912+583_912+594del XP_011536724.1:n.912+583_912+594del
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