Canonical Allele Identifier: CA2059466271
Gene: PAH HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102894436_102894442delinsAAAAAAG , CM000674.2:g.102894436_102894442delinsAAAAAAG GRCh38
NC_000012.11:g.103288214_103288220delinsAAAAAAG , CM000674.1:g.103288214_103288220delinsAAAAAAG GRCh37
NC_000012.10:g.101812344_101812350delinsAAAAAAG NCBI36
NG_008690.1:g.28161_28167delinsCTTTTTT
NG_008690.2:g.68969_68975delinsCTTTTTT

Transcript Alleles

HGVS Amino-acid Change
ENST00000553106.6:c.352+293_352+299delinsCTTTTTT MANE Select ENSP00000448059.1:n.352+293_352+299delinsCTTTTTT
ENST00000307000.7:c.337+293_337+299delinsCTTTTTT ENSP00000303500.2:n.337+293_337+299delinsCTTTTTT
ENST00000548928.1:n.274+293_274+299delinsCTTTTTT
ENST00000549111.5:n.448+293_448+299delinsCTTTTTT
ENST00000550978.6:c.336+293_336+299delinsCTTTTTT
ENST00000551337.5:c.352+293_352+299delinsCTTTTTT ENSP00000447620.1:n.352+293_352+299delinsCTTTTTT
ENST00000551988.5:n.441+293_441+299delinsCTTTTTT
ENST00000553106.5:c.352+293_352+299delinsCTTTTTT ENSP00000448059.1:n.352+293_352+299delinsCTTTTTT
NM_000277.1:c.352+293_352+299delinsCTTTTTT NP_000268.1:n.352+293_352+299delinsCTTTTTT
XM_011538422.1:c.352+293_352+299delinsCTTTTTT XP_011536724.1:n.352+293_352+299delinsCTTTTTT
NM_000277.2:c.352+293_352+299delinsCTTTTTT NP_000268.1:n.352+293_352+299delinsCTTTTTT
NM_001354304.1:c.352+293_352+299delinsCTTTTTT NP_001341233.1:n.352+293_352+299delinsCTTTTTT
XM_017019370.2:c.352+293_352+299delinsCTTTTTT XP_016874859.1:n.352+293_352+299delinsCTTTTTT
NM_000277.3:c.352+293_352+299delinsCTTTTTT MANE Select NP_000268.1:n.352+293_352+299delinsCTTTTTT
NM_001354304.2:c.352+293_352+299delinsCTTTTTT NP_001341233.1:n.352+293_352+299delinsCTTTTTT
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