Canonical Allele Identifier: CA2059450402
Gene: PAH HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102894356_102894357delinsGA , CM000674.2:g.102894356_102894357delinsGA GRCh38
NC_000012.11:g.103288134_103288135delinsGA , CM000674.1:g.103288134_103288135delinsGA GRCh37
NC_000012.10:g.101812264_101812265delinsGA NCBI36
NG_008690.1:g.28246_28247delinsTC
NG_008690.2:g.69054_69055delinsTC

Transcript Alleles

HGVS Amino-acid Change
ENST00000553106.6:c.352+378_352+379delinsTC MANE Select ENSP00000448059.1:n.352+378_352+379delinsTC
ENST00000307000.7:c.337+378_337+379delinsTC ENSP00000303500.2:n.337+378_337+379delinsTC
ENST00000548928.1:n.274+378_274+379delinsTC
ENST00000549111.5:n.448+378_448+379delinsTC
ENST00000550978.6:c.336+378_336+379delinsTC
ENST00000551337.5:c.352+378_352+379delinsTC ENSP00000447620.1:n.352+378_352+379delinsTC
ENST00000551988.5:n.441+378_441+379delinsTC
ENST00000553106.5:c.352+378_352+379delinsTC ENSP00000448059.1:n.352+378_352+379delinsTC
NM_000277.1:c.352+378_352+379delinsTC NP_000268.1:n.352+378_352+379delinsTC
XM_011538422.1:c.352+378_352+379delinsTC XP_011536724.1:n.352+378_352+379delinsTC
NM_000277.2:c.352+378_352+379delinsTC NP_000268.1:n.352+378_352+379delinsTC
NM_001354304.1:c.352+378_352+379delinsTC NP_001341233.1:n.352+378_352+379delinsTC
XM_017019370.2:c.352+378_352+379delinsTC XP_016874859.1:n.352+378_352+379delinsTC
NM_000277.3:c.352+378_352+379delinsTC MANE Select NP_000268.1:n.352+378_352+379delinsTC
NM_001354304.2:c.352+378_352+379delinsTC NP_001341233.1:n.352+378_352+379delinsTC
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