Canonical Allele Identifier: CA2059443474
Community Standard Title: NM_000277.3(PAH):c.912+583_912+595delinsCTTTTTTTTTTCT
Gene: PAH HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102851092_102851104delinsAGAAAAAAAAAAG , CM000674.2:g.102851092_102851104delinsAGAAAAAAAAAAG GRCh38
NC_000012.11:g.103244870_103244882delinsAGAAAAAAAAAAG , CM000674.1:g.103244870_103244882delinsAGAAAAAAAAAAG GRCh37
NC_000012.10:g.101769000_101769012delinsAGAAAAAAAAAAG NCBI36
NG_008690.1:g.71499_71511delinsCTTTTTTTTTTCT
NG_008690.2:g.112307_112319delinsCTTTTTTTTTTCT

Transcript Alleles

HGVS Amino-acid Change
NM_000277.3:c.912+583_912+595delinsCTTTTTTTTTTCT MANE Select NP_000268.1:n.912+583_912+595delinsCTTTTTTTTTTCT
ENST00000553106.6:c.912+583_912+595delinsCTTTTTTTTTTCT MANE Select ENSP00000448059.1:n.912+583_912+595delinsCTTTTTTTTTTCT
NM_000277.1:c.912+583_912+595delinsCTTTTTTTTTTCT NP_000268.1:n.912+583_912+595delinsCTTTTTTTTTTCT
NM_000277.2:c.912+583_912+595delinsCTTTTTTTTTTCT NP_000268.1:n.912+583_912+595delinsCTTTTTTTTTTCT
NM_001354304.1:c.912+583_912+595delinsCTTTTTTTTTTCT NP_001341233.1:n.912+583_912+595delinsCTTTTTTTTTTCT
NM_001354304.2:c.912+583_912+595delinsCTTTTTTTTTTCT NP_001341233.1:n.912+583_912+595delinsCTTTTTTTTTTCT
ENST00000307000.7:c.897+583_897+595delinsCTTTTTTTTTTCT ENSP00000303500.2:n.897+583_897+595delinsCTTTTTTTTTTCT
ENST00000549247.6:n.671+583_671+595delinsCTTTTTTTTTTCT
ENST00000551114.2:n.574+583_574+595delinsCTTTTTTTTTTCT
ENST00000553106.5:c.912+583_912+595delinsCTTTTTTTTTTCT ENSP00000448059.1:n.912+583_912+595delinsCTTTTTTTTTTCT
ENST00000635477.1:c.73+583_73+595delinsCTTTTTTTTTTCT
XM_011538422.1:c.912+583_912+595delinsCTTTTTTTTTTCT XP_011536724.1:n.912+583_912+595delinsCTTTTTTTTTTCT
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