Canonical Allele Identifier: CA2601918480
Gene: PAH HGNC NCBI

Linked Data

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

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102894441_102894442insAAAAAAAAGAAATTAAAAGCTTAAAAAGAAAAAAAAAAAAAA , CM000674.2:g.102894441_102894442insAAAAAAAAGAAATTAAAAGCTTAAAAAGAAAAAAAAAAAAAA GRCh38
NC_000012.11:g.103288219_103288220insAAAAAAAAGAAATTAAAAGCTTAAAAAGAAAAAAAAAAAAAA , CM000674.1:g.103288219_103288220insAAAAAAAAGAAATTAAAAGCTTAAAAAGAAAAAAAAAAAAAA GRCh37
NC_000012.10:g.101812349_101812350insAAAAAAAAGAAATTAAAAGCTTAAAAAGAAAAAAAAAAAAAA NCBI36
NG_008690.1:g.28173_28174insTTCTTTTTAAGCTTTTAATTTCTTTTTTTTTTTTTTTTTTTT
NG_008690.2:g.68981_68982insTTCTTTTTAAGCTTTTAATTTCTTTTTTTTTTTTTTTTTTTT

Transcript Alleles

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