Canonical Allele Identifier: CA951234581
Community Standard Title: NM_000277.3(PAH):c.912+579_912+583del
Gene: PAH HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102851104_102851108del , CM000674.2:g.102851104_102851108del GRCh38
NC_000012.11:g.103244882_103244886del , CM000674.1:g.103244882_103244886del GRCh37
NC_000012.10:g.101769012_101769016del NCBI36
NG_008690.1:g.71495_71499del
NG_008690.2:g.112303_112307del

Transcript Alleles

HGVS Amino-acid Change
NM_000277.3:c.912+579_912+583del MANE Select NP_000268.1:n.912+579_912+583del
ENST00000553106.6:c.912+579_912+583del MANE Select ENSP00000448059.1:n.912+579_912+583del
NM_000277.1:c.912+579_912+583del NP_000268.1:n.912+579_912+583del
NM_000277.2:c.912+579_912+583del NP_000268.1:n.912+579_912+583del
NM_001354304.1:c.912+579_912+583del NP_001341233.1:n.912+579_912+583del
NM_001354304.2:c.912+579_912+583del NP_001341233.1:n.912+579_912+583del
ENST00000307000.7:c.897+579_897+583del ENSP00000303500.2:n.897+579_897+583del
ENST00000549247.6:n.671+579_671+583del
ENST00000551114.2:n.574+579_574+583del
ENST00000553106.5:c.912+579_912+583del ENSP00000448059.1:n.912+579_912+583del
ENST00000635477.1:c.73+579_73+583del
XM_011538422.1:c.912+579_912+583del XP_011536724.1:n.912+579_912+583del
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