Canonical Allele Identifier: CA2559751209
Gene: PAH HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102865759_102865760insGGGTAATCAAAGCTTACAA , CM000674.2:g.102865759_102865760insGGGTAATCAAAGCTTACAA GRCh38
NC_000012.11:g.103259537_103259538insGGGTAATCAAAGCTTACAA , CM000674.1:g.103259537_103259538insGGGTAATCAAAGCTTACAA GRCh37
NC_000012.10:g.101783667_101783668insGGGTAATCAAAGCTTACAA NCBI36
NG_008690.1:g.56843_56844insTTGTAAGCTTTGATTACCC
NG_008690.2:g.97651_97652insTTGTAAGCTTTGATTACCC

Transcript Alleles

HGVS Amino-acid Change
ENST00000553106.6:c.509+836_509+837insTTGTAAGCTTTGATTACCC MANE Select ENSP00000448059.1:n.509+836_509+837insTTGTAAGCTTTGATTACCC
ENST00000307000.7:c.494+836_494+837insTTGTAAGCTTTGATTACCC ENSP00000303500.2:n.494+836_494+837insTTGTAAGCTTTGATTACCC
ENST00000549111.5:n.605+836_605+837insTTGTAAGCTTTGATTACCC
ENST00000551988.5:n.531-10428_531-10427insTTGTAAGCTTTGATTACCC
ENST00000553106.5:c.509+836_509+837insTTGTAAGCTTTGATTACCC ENSP00000448059.1:n.509+836_509+837insTTGTAAGCTTTGATTACCC
NM_000277.1:c.509+836_509+837insTTGTAAGCTTTGATTACCC NP_000268.1:n.509+836_509+837insTTGTAAGCTTTGATTACCC
XM_011538422.1:c.509+836_509+837insTTGTAAGCTTTGATTACCC XP_011536724.1:n.509+836_509+837insTTGTAAGCTTTGATTACCC
NM_000277.2:c.509+836_509+837insTTGTAAGCTTTGATTACCC NP_000268.1:n.509+836_509+837insTTGTAAGCTTTGATTACCC
NM_001354304.1:c.509+836_509+837insTTGTAAGCTTTGATTACCC NP_001341233.1:n.509+836_509+837insTTGTAAGCTTTGATTACCC
XM_017019370.2:c.509+836_509+837insTTGTAAGCTTTGATTACCC XP_016874859.1:n.509+836_509+837insTTGTAAGCTTTGATTACCC
NM_000277.3:c.509+836_509+837insTTGTAAGCTTTGATTACCC MANE Select NP_000268.1:n.509+836_509+837insTTGTAAGCTTTGATTACCC
NM_001354304.2:c.509+836_509+837insTTGTAAGCTTTGATTACCC NP_001341233.1:n.509+836_509+837insTTGTAAGCTTTGATTACCC
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