Canonical Allele Identifier: CA951241098
Gene: PAH HGNC NCBI

Linked Data

gnomAD v3: 12-102865727-T-TG
gnomAD v4: 12-102865727-T-TG
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102865727_102865728insG , CM000674.2:g.102865727_102865728insG GRCh38
NC_000012.11:g.103259505_103259506insG , CM000674.1:g.103259505_103259506insG GRCh37
NC_000012.10:g.101783635_101783636insG NCBI36
NG_008690.1:g.56875_56876insC
NG_008690.2:g.97683_97684insC

Transcript Alleles

HGVS Amino-acid Change
ENST00000553106.6:c.509+868_509+869insC MANE Select ENSP00000448059.1:n.509+868_509+869insC
ENST00000307000.7:c.494+868_494+869insC ENSP00000303500.2:n.494+868_494+869insC
ENST00000549111.5:n.605+868_605+869insC
ENST00000551988.5:n.531-10396_531-10395insC
ENST00000553106.5:c.509+868_509+869insC ENSP00000448059.1:n.509+868_509+869insC
NM_000277.1:c.509+868_509+869insC NP_000268.1:n.509+868_509+869insC
XM_011538422.1:c.509+868_509+869insC XP_011536724.1:n.509+868_509+869insC
NM_000277.2:c.509+868_509+869insC NP_000268.1:n.509+868_509+869insC
NM_001354304.1:c.509+868_509+869insC NP_001341233.1:n.509+868_509+869insC
XM_017019370.2:c.509+868_509+869insC XP_016874859.1:n.509+868_509+869insC
NM_000277.3:c.509+868_509+869insC MANE Select NP_000268.1:n.509+868_509+869insC
NM_001354304.2:c.509+868_509+869insC NP_001341233.1:n.509+868_509+869insC
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