Canonical Allele Identifier: CA2979026911
Community Standard Title: NM_000277.3(PAH):c.509+500_509+501del
Gene: PAH HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102866095_102866096del , CM000674.2:g.102866095_102866096del GRCh38
NC_000012.11:g.103259873_103259874del , CM000674.1:g.103259873_103259874del GRCh37
NC_000012.10:g.101784003_101784004del NCBI36
NG_008690.1:g.56507_56508del
NG_008690.2:g.97315_97316del

Transcript Alleles

HGVS Amino-acid Change
NM_000277.3:c.509+500_509+501del MANE Select NP_000268.1:n.509+500_509+501del
ENST00000553106.6:c.509+500_509+501del MANE Select ENSP00000448059.1:n.509+500_509+501del
NM_000277.1:c.509+500_509+501del NP_000268.1:n.509+500_509+501del
NM_000277.2:c.509+500_509+501del NP_000268.1:n.509+500_509+501del
NM_001354304.1:c.509+500_509+501del NP_001341233.1:n.509+500_509+501del
NM_001354304.2:c.509+500_509+501del NP_001341233.1:n.509+500_509+501del
ENST00000307000.7:c.494+500_494+501del ENSP00000303500.2:n.494+500_494+501del
ENST00000549111.5:n.605+500_605+501del
ENST00000551988.5:n.531-10764_531-10763del
ENST00000553106.5:c.509+500_509+501del ENSP00000448059.1:n.509+500_509+501del
XM_011538422.1:c.509+500_509+501del XP_011536724.1:n.509+500_509+501del
XM_017019370.2:c.509+500_509+501del XP_016874859.1:n.509+500_509+501del
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