Canonical Allele Identifier: CA2695217228
Gene: PAH HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102844360_102844367del , CM000674.2:g.102844360_102844367del GRCh38
NC_000012.11:g.103238138_103238145del , CM000674.1:g.103238138_103238145del GRCh37
NC_000012.10:g.101762268_101762275del NCBI36
NG_008690.1:g.78239_78246del
NG_008690.2:g.119047_119054del

Transcript Alleles

HGVS Amino-acid Change
ENST00000553106.6:c.1037_1044del MANE Select ENSP00000448059.1:p.Gly346ValfsTer5
ENST00000307000.7:c.1022_1029del ENSP00000303500.2:p.Gly341ValfsTer5
ENST00000549247.6:n.796_803del
ENST00000551114.2:n.699_706del
ENST00000553106.5:c.1037_1044del ENSP00000448059.1:p.Gly346ValfsTer5
ENST00000635477.1:c.141_148del
ENST00000635528.1:n.552_559del
NM_000277.1:c.1037_1044del NP_000268.1:p.Gly346ValfsTer5
XM_011538422.1:c.980_987del XP_011536724.1:p.Gly327ValfsTer5
NM_000277.2:c.1037_1044del NP_000268.1:p.Gly346ValfsTer5
NM_001354304.1:c.1037_1044del NP_001341233.1:p.Gly346ValfsTer5
NM_000277.3:c.1037_1044del MANE Select NP_000268.1:p.Gly346ValfsTer5
NM_001354304.2:c.1037_1044del NP_001341233.1:p.Gly346ValfsTer5
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