Canonical Allele Identifier: CA2059443588
Community Standard Title: NM_000277.3(PAH):c.912+565_912+567delinsTTC
Gene: PAH HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102851120_102851122delinsGAA , CM000674.2:g.102851120_102851122delinsGAA GRCh38
NC_000012.11:g.103244898_103244900delinsGAA , CM000674.1:g.103244898_103244900delinsGAA GRCh37
NC_000012.10:g.101769028_101769030delinsGAA NCBI36
NG_008690.1:g.71481_71483delinsTTC
NG_008690.2:g.112289_112291delinsTTC

Transcript Alleles

HGVS Amino-acid Change
NM_000277.3:c.912+565_912+567delinsTTC MANE Select NP_000268.1:n.912+565_912+567delinsTTC
ENST00000553106.6:c.912+565_912+567delinsTTC MANE Select ENSP00000448059.1:n.912+565_912+567delinsTTC
NM_000277.1:c.912+565_912+567delinsTTC NP_000268.1:n.912+565_912+567delinsTTC
NM_000277.2:c.912+565_912+567delinsTTC NP_000268.1:n.912+565_912+567delinsTTC
NM_001354304.1:c.912+565_912+567delinsTTC NP_001341233.1:n.912+565_912+567delinsTTC
NM_001354304.2:c.912+565_912+567delinsTTC NP_001341233.1:n.912+565_912+567delinsTTC
ENST00000307000.7:c.897+565_897+567delinsTTC ENSP00000303500.2:n.897+565_897+567delinsTTC
ENST00000549247.6:n.671+565_671+567delinsTTC
ENST00000551114.2:n.574+565_574+567delinsTTC
ENST00000553106.5:c.912+565_912+567delinsTTC ENSP00000448059.1:n.912+565_912+567delinsTTC
ENST00000635477.1:c.73+565_73+567delinsTTC
XM_011538422.1:c.912+565_912+567delinsTTC XP_011536724.1:n.912+565_912+567delinsTTC
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