Canonical Allele Identifier: CA2059466226
Gene: PAH HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102894429_102894431delinsTAA , CM000674.2:g.102894429_102894431delinsTAA GRCh38
NC_000012.11:g.103288207_103288209delinsTAA , CM000674.1:g.103288207_103288209delinsTAA GRCh37
NC_000012.10:g.101812337_101812339delinsTAA NCBI36
NG_008690.1:g.28172_28174delinsTTA
NG_008690.2:g.68980_68982delinsTTA

Transcript Alleles

HGVS Amino-acid Change
ENST00000553106.6:c.352+304_352+306delinsTTA MANE Select ENSP00000448059.1:n.352+304_352+306delinsTTA
ENST00000307000.7:c.337+304_337+306delinsTTA ENSP00000303500.2:n.337+304_337+306delinsTTA
ENST00000548928.1:n.274+304_274+306delinsTTA
ENST00000549111.5:n.448+304_448+306delinsTTA
ENST00000550978.6:c.336+304_336+306delinsTTA
ENST00000551337.5:c.352+304_352+306delinsTTA ENSP00000447620.1:n.352+304_352+306delinsTTA
ENST00000551988.5:n.441+304_441+306delinsTTA
ENST00000553106.5:c.352+304_352+306delinsTTA ENSP00000448059.1:n.352+304_352+306delinsTTA
NM_000277.1:c.352+304_352+306delinsTTA NP_000268.1:n.352+304_352+306delinsTTA
XM_011538422.1:c.352+304_352+306delinsTTA XP_011536724.1:n.352+304_352+306delinsTTA
NM_000277.2:c.352+304_352+306delinsTTA NP_000268.1:n.352+304_352+306delinsTTA
NM_001354304.1:c.352+304_352+306delinsTTA NP_001341233.1:n.352+304_352+306delinsTTA
XM_017019370.2:c.352+304_352+306delinsTTA XP_016874859.1:n.352+304_352+306delinsTTA
NM_000277.3:c.352+304_352+306delinsTTA MANE Select NP_000268.1:n.352+304_352+306delinsTTA
NM_001354304.2:c.352+304_352+306delinsTTA NP_001341233.1:n.352+304_352+306delinsTTA
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