Canonical Allele Identifier: CA655151299
Gene: PAH HGNC NCBI

Linked Data

dbSNP Id: rs3062690
gnomAD v3: 12-102866083-GA-G
gnomAD v4: 12-102866083-GA-G
COSMIC: COSN18749705
MyVariant Identifiers: chr12:g.103259862del (hg19) chr12:g.102866084del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102866095del , CM000674.2:g.102866095del GRCh38
NC_000012.11:g.103259873del , CM000674.1:g.103259873del GRCh37
NC_000012.10:g.101784003del NCBI36
NG_008690.1:g.56519del
NG_008690.2:g.97327del

Transcript Alleles

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