Canonical Allele Identifier: CA951244144
Gene: PAH HGNC NCBI

Linked Data

dbSNP Id: rs3062651
gnomAD v3: 12-102894429-T-TAAAAAAAAAAAAAGAAAAAAAAAAAAAAAAAAATAAAAATTAAAAGCTTAAAAAGGA
gnomAD v4: 12-102894429-T-TAAAAAAAAAAAAAGAAAAAAAAAAAAAAAAAAATAAAAATTAAAAGCTTAAAAAGGA
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102894441_102894442insAGAAAAAAAAAAAAAAAAAAATAAAAATTAAAAGCTTAAAAAGGAAAAAAAAAAAAA , CM000674.2:g.102894441_102894442insAGAAAAAAAAAAAAAAAAAAATAAAAATTAAAAGCTTAAAAAGGAAAAAAAAAAAAA GRCh38
NC_000012.11:g.103288219_103288220insAGAAAAAAAAAAAAAAAAAAATAAAAATTAAAAGCTTAAAAAGGAAAAAAAAAAAAA , CM000674.1:g.103288219_103288220insAGAAAAAAAAAAAAAAAAAAATAAAAATTAAAAGCTTAAAAAGGAAAAAAAAAAAAA GRCh37
NC_000012.10:g.101812349_101812350insAGAAAAAAAAAAAAAAAAAAATAAAAATTAAAAGCTTAAAAAGGAAAAAAAAAAAAA NCBI36
NG_008690.1:g.28173_28174insTCCTTTTTAAGCTTTTAATTTTTATTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTT
NG_008690.2:g.68981_68982insTCCTTTTTAAGCTTTTAATTTTTATTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTT

Transcript Alleles

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