Canonical Allele Identifier: CA2059456588
Gene: PAH HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102865742_102865746delinsTTCTC , CM000674.2:g.102865742_102865746delinsTTCTC GRCh38
NC_000012.11:g.103259520_103259524delinsTTCTC , CM000674.1:g.103259520_103259524delinsTTCTC GRCh37
NC_000012.10:g.101783650_101783654delinsTTCTC NCBI36
NG_008690.1:g.56857_56861delinsGAGAA
NG_008690.2:g.97665_97669delinsGAGAA

Transcript Alleles

HGVS Amino-acid Change
ENST00000553106.6:c.509+850_509+854delinsGAGAA MANE Select ENSP00000448059.1:n.509+850_509+854delinsGAGAA
ENST00000307000.7:c.494+850_494+854delinsGAGAA ENSP00000303500.2:n.494+850_494+854delinsGAGAA
ENST00000549111.5:n.605+850_605+854delinsGAGAA
ENST00000551988.5:n.531-10414_531-10410delinsGAGAA
ENST00000553106.5:c.509+850_509+854delinsGAGAA ENSP00000448059.1:n.509+850_509+854delinsGAGAA
NM_000277.1:c.509+850_509+854delinsGAGAA NP_000268.1:n.509+850_509+854delinsGAGAA
XM_011538422.1:c.509+850_509+854delinsGAGAA XP_011536724.1:n.509+850_509+854delinsGAGAA
NM_000277.2:c.509+850_509+854delinsGAGAA NP_000268.1:n.509+850_509+854delinsGAGAA
NM_001354304.1:c.509+850_509+854delinsGAGAA NP_001341233.1:n.509+850_509+854delinsGAGAA
XM_017019370.2:c.509+850_509+854delinsGAGAA XP_016874859.1:n.509+850_509+854delinsGAGAA
NM_000277.3:c.509+850_509+854delinsGAGAA MANE Select NP_000268.1:n.509+850_509+854delinsGAGAA
NM_001354304.2:c.509+850_509+854delinsGAGAA NP_001341233.1:n.509+850_509+854delinsGAGAA
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