Canonical Allele Identifier: CA951241369
Gene: PAH HGNC NCBI

Linked Data

gnomAD v3: 12-102866100-C-CAAAAAAAAA
gnomAD v4: 12-102866100-C-CAAAAAAAAA
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102866100_102866101insAAAAAAAAA , CM000674.2:g.102866100_102866101insAAAAAAAAA GRCh38
NC_000012.11:g.103259878_103259879insAAAAAAAAA , CM000674.1:g.103259878_103259879insAAAAAAAAA GRCh37
NC_000012.10:g.101784008_101784009insAAAAAAAAA NCBI36
NG_008690.1:g.56502_56503insTTTTTTTTT
NG_008690.2:g.97310_97311insTTTTTTTTT

Transcript Alleles

HGVS Amino-acid Change
ENST00000553106.6:c.509+495_509+496insTTTTTTTTT MANE Select ENSP00000448059.1:n.509+495_509+496insTTTTTTTTT
ENST00000307000.7:c.494+495_494+496insTTTTTTTTT ENSP00000303500.2:n.494+495_494+496insTTTTTTTTT
ENST00000549111.5:n.605+495_605+496insTTTTTTTTT
ENST00000551988.5:n.531-10769_531-10768insTTTTTTTTT
ENST00000553106.5:c.509+495_509+496insTTTTTTTTT ENSP00000448059.1:n.509+495_509+496insTTTTTTTTT
NM_000277.1:c.509+495_509+496insTTTTTTTTT NP_000268.1:n.509+495_509+496insTTTTTTTTT
XM_011538422.1:c.509+495_509+496insTTTTTTTTT XP_011536724.1:n.509+495_509+496insTTTTTTTTT
NM_000277.2:c.509+495_509+496insTTTTTTTTT NP_000268.1:n.509+495_509+496insTTTTTTTTT
NM_001354304.1:c.509+495_509+496insTTTTTTTTT NP_001341233.1:n.509+495_509+496insTTTTTTTTT
XM_017019370.2:c.509+495_509+496insTTTTTTTTT XP_016874859.1:n.509+495_509+496insTTTTTTTTT
NM_000277.3:c.509+495_509+496insTTTTTTTTT MANE Select NP_000268.1:n.509+495_509+496insTTTTTTTTT
NM_001354304.2:c.509+495_509+496insTTTTTTTTT NP_001341233.1:n.509+495_509+496insTTTTTTTTT
Search 100 bp 5'
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