Canonical Allele Identifier: CA2620516220
Gene: PAH HGNC NCBI

Linked Data

gnomAD v4: 12-102853191-A-AC
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102853191_102853192insC , CM000674.2:g.102853191_102853192insC GRCh38
NC_000012.11:g.103246969_103246970insC , CM000674.1:g.103246969_103246970insC GRCh37
NC_000012.10:g.101771099_101771100insC NCBI36
NG_008690.1:g.69411_69412insG
NG_008690.2:g.110219_110220insG

Transcript Alleles

HGVS Amino-acid Change
ENST00000553106.6:c.707-242_707-241insG MANE Select ENSP00000448059.1:n.707-242_707-241insG
ENST00000307000.7:c.692-242_692-241insG ENSP00000303500.2:n.692-242_692-241insG
ENST00000549247.6:n.224_225insG
ENST00000553106.5:c.707-242_707-241insG ENSP00000448059.1:n.707-242_707-241insG
NM_000277.1:c.707-242_707-241insG NP_000268.1:n.707-242_707-241insG
XM_011538422.1:c.707-242_707-241insG XP_011536724.1:n.707-242_707-241insG
NM_000277.2:c.707-242_707-241insG NP_000268.1:n.707-242_707-241insG
NM_001354304.1:c.707-242_707-241insG NP_001341233.1:n.707-242_707-241insG
NM_000277.3:c.707-242_707-241insG MANE Select NP_000268.1:n.707-242_707-241insG
NM_001354304.2:c.707-242_707-241insG NP_001341233.1:n.707-242_707-241insG
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