Canonical Allele Identifier: CA2695217229
Gene: PAH HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102844416_102844417del , CM000674.2:g.102844416_102844417del GRCh38
NC_000012.11:g.103238194_103238195del , CM000674.1:g.103238194_103238195del GRCh37
NC_000012.10:g.101762324_101762325del NCBI36
NG_008690.1:g.78188_78189del
NG_008690.2:g.118996_118997del

Transcript Alleles

HGVS Amino-acid Change
ENST00000553106.6:c.986_987del MANE Select ENSP00000448059.1:p.Val329GlyfsTer24
ENST00000307000.7:c.971_972del ENSP00000303500.2:p.Val324GlyfsTer24
ENST00000549247.6:n.745_746del
ENST00000551114.2:n.648_649del
ENST00000553106.5:c.986_987del ENSP00000448059.1:p.Val329GlyfsTer24
ENST00000635477.1:c.90_91del
ENST00000635528.1:n.501_502del
NM_000277.1:c.986_987del NP_000268.1:p.Val329GlyfsTer24
XM_011538422.1:c.929_930del XP_011536724.1:p.Val310GlyfsTer24
NM_000277.2:c.986_987del NP_000268.1:p.Val329GlyfsTer24
NM_001354304.1:c.986_987del NP_001341233.1:p.Val329GlyfsTer24
NM_000277.3:c.986_987del MANE Select NP_000268.1:p.Val329GlyfsTer24
NM_001354304.2:c.986_987del NP_001341233.1:p.Val329GlyfsTer24
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