Canonical Allele Identifier: CA2059456729
Gene: PAH HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102866083_102866084delinsGA , CM000674.2:g.102866083_102866084delinsGA GRCh38
NC_000012.11:g.103259861_103259862delinsGA , CM000674.1:g.103259861_103259862delinsGA GRCh37
NC_000012.10:g.101783991_101783992delinsGA NCBI36
NG_008690.1:g.56519_56520delinsTC
NG_008690.2:g.97327_97328delinsTC

Transcript Alleles

HGVS Amino-acid Change
ENST00000553106.6:c.509+512_509+513delinsTC MANE Select ENSP00000448059.1:n.509+512_509+513delinsTC
ENST00000307000.7:c.494+512_494+513delinsTC ENSP00000303500.2:n.494+512_494+513delinsTC
ENST00000549111.5:n.605+512_605+513delinsTC
ENST00000551988.5:n.531-10752_531-10751delinsTC
ENST00000553106.5:c.509+512_509+513delinsTC ENSP00000448059.1:n.509+512_509+513delinsTC
NM_000277.1:c.509+512_509+513delinsTC NP_000268.1:n.509+512_509+513delinsTC
XM_011538422.1:c.509+512_509+513delinsTC XP_011536724.1:n.509+512_509+513delinsTC
NM_000277.2:c.509+512_509+513delinsTC NP_000268.1:n.509+512_509+513delinsTC
NM_001354304.1:c.509+512_509+513delinsTC NP_001341233.1:n.509+512_509+513delinsTC
XM_017019370.2:c.509+512_509+513delinsTC XP_016874859.1:n.509+512_509+513delinsTC
NM_000277.3:c.509+512_509+513delinsTC MANE Select NP_000268.1:n.509+512_509+513delinsTC
NM_001354304.2:c.509+512_509+513delinsTC NP_001341233.1:n.509+512_509+513delinsTC
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