Canonical Allele Identifier: CA951244164
Gene: PAH HGNC NCBI

Linked Data

gnomAD v3: 12-102894429-T-TAAAAAAAAAAAAAAAAAAAAAAAATAAAAAAAAATAAAAAATAAAAGATAATAAAAAA
gnomAD v4: 12-102894429-T-TAAAAAAAAAAAAAAAAAAAAAAAATAAAAAAAAATAAAAAATAAAAGATAATAAAAAA
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102894441_102894442insAAAAAAAAAAAATAAAAAAAAATAAAAAATAAAAGATAATAAAAAAAAAAAAAAAAAA , CM000674.2:g.102894441_102894442insAAAAAAAAAAAATAAAAAAAAATAAAAAATAAAAGATAATAAAAAAAAAAAAAAAAAA GRCh38
NC_000012.11:g.103288219_103288220insAAAAAAAAAAAATAAAAAAAAATAAAAAATAAAAGATAATAAAAAAAAAAAAAAAAAA , CM000674.1:g.103288219_103288220insAAAAAAAAAAAATAAAAAAAAATAAAAAATAAAAGATAATAAAAAAAAAAAAAAAAAA GRCh37
NC_000012.10:g.101812349_101812350insAAAAAAAAAAAATAAAAAAAAATAAAAAATAAAAGATAATAAAAAAAAAAAAAAAAAA NCBI36
NG_008690.1:g.28173_28174insTTTTTTATTATCTTTTATTTTTTATTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTT
NG_008690.2:g.68981_68982insTTTTTTATTATCTTTTATTTTTTATTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTT

Transcript Alleles

HGVS Amino-acid Change
ENST00000553106.6:c.352+305_352+306insTTTTTTATTATCTTTTATTTTTTATTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTT MANE Select ENSP00000448059.1:n.352+305_352+306insTTTTTTATTATCTTTTATTTTTT...
ENST00000307000.7:c.337+305_337+306insTTTTTTATTATCTTTTATTTTTTATTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTT ENSP00000303500.2:n.337+305_337+306insTTTTTTATTATCTTTTATTTTTT...
ENST00000548928.1:n.274+305_274+306insTTTTTTATTATCTTTTATTTTTTATTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTT
ENST00000549111.5:n.448+305_448+306insTTTTTTATTATCTTTTATTTTTTATTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTT
ENST00000550978.6:c.336+305_336+306insTTTTTTATTATCTTTTATTTTTTATTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTT
ENST00000551337.5:c.352+305_352+306insTTTTTTATTATCTTTTATTTTTTATTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTT ENSP00000447620.1:n.352+305_352+306insTTTTTTATTATCTTTTATTTTTT...
ENST00000551988.5:n.441+305_441+306insTTTTTTATTATCTTTTATTTTTTATTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTT
ENST00000553106.5:c.352+305_352+306insTTTTTTATTATCTTTTATTTTTTATTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTT ENSP00000448059.1:n.352+305_352+306insTTTTTTATTATCTTTTATTTTTT...
NM_000277.1:c.352+305_352+306insTTTTTTATTATCTTTTATTTTTTATTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTT NP_000268.1:n.352+305_352+306insTTTTTTATTATCTTTTATTTTTTATTTTT...
XM_011538422.1:c.352+305_352+306insTTTTTTATTATCTTTTATTTTTTATTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTT XP_011536724.1:n.352+305_352+306insTTTTTTATTATCTTTTATTTTTTATT...
NM_000277.2:c.352+305_352+306insTTTTTTATTATCTTTTATTTTTTATTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTT NP_000268.1:n.352+305_352+306insTTTTTTATTATCTTTTATTTTTTATTTTT...
NM_001354304.1:c.352+305_352+306insTTTTTTATTATCTTTTATTTTTTATTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTT NP_001341233.1:n.352+305_352+306insTTTTTTATTATCTTTTATTTTTTATT...
XM_017019370.2:c.352+305_352+306insTTTTTTATTATCTTTTATTTTTTATTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTT XP_016874859.1:n.352+305_352+306insTTTTTTATTATCTTTTATTTTTTATT...
NM_000277.3:c.352+305_352+306insTTTTTTATTATCTTTTATTTTTTATTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTT MANE Select NP_000268.1:n.352+305_352+306insTTTTTTATTATCTTTTATTTTTTATTTTT...
NM_001354304.2:c.352+305_352+306insTTTTTTATTATCTTTTATTTTTTATTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTT NP_001341233.1:n.352+305_352+306insTTTTTTATTATCTTTTATTTTTTATT...
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