Canonical Allele Identifier: CA2059443537
Community Standard Title: NM_000277.3(PAH):c.912+577_912+583delinsTTCTTTC
Gene: PAH HGNC NCBI
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102851104_102851110delinsGAAAGAA , CM000674.2:g.102851104_102851110delinsGAAAGAA GRCh38
NC_000012.11:g.103244882_103244888delinsGAAAGAA , CM000674.1:g.103244882_103244888delinsGAAAGAA GRCh37
NC_000012.10:g.101769012_101769018delinsGAAAGAA NCBI36
NG_008690.1:g.71493_71499delinsTTCTTTC
NG_008690.2:g.112301_112307delinsTTCTTTC

Transcript Alleles

HGVS Amino-acid Change
NM_000277.3:c.912+577_912+583delinsTTCTTTC MANE Select NP_000268.1:n.912+577_912+583delinsTTCTTTC
ENST00000553106.6:c.912+577_912+583delinsTTCTTTC MANE Select ENSP00000448059.1:n.912+577_912+583delinsTTCTTTC
NM_000277.1:c.912+577_912+583delinsTTCTTTC NP_000268.1:n.912+577_912+583delinsTTCTTTC
NM_000277.2:c.912+577_912+583delinsTTCTTTC NP_000268.1:n.912+577_912+583delinsTTCTTTC
NM_001354304.1:c.912+577_912+583delinsTTCTTTC NP_001341233.1:n.912+577_912+583delinsTTCTTTC
NM_001354304.2:c.912+577_912+583delinsTTCTTTC NP_001341233.1:n.912+577_912+583delinsTTCTTTC
ENST00000307000.7:c.897+577_897+583delinsTTCTTTC ENSP00000303500.2:n.897+577_897+583delinsTTCTTTC
ENST00000549247.6:n.671+577_671+583delinsTTCTTTC
ENST00000551114.2:n.574+577_574+583delinsTTCTTTC
ENST00000553106.5:c.912+577_912+583delinsTTCTTTC ENSP00000448059.1:n.912+577_912+583delinsTTCTTTC
ENST00000635477.1:c.73+577_73+583delinsTTCTTTC
XM_011538422.1:c.912+577_912+583delinsTTCTTTC XP_011536724.1:n.912+577_912+583delinsTTCTTTC
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