Canonical Allele Identifier: CA2059448030
Gene: PAH HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102854264_102854265delinsGC , CM000674.2:g.102854264_102854265delinsGC GRCh38
NC_000012.11:g.103248042_103248043delinsGC , CM000674.1:g.103248042_103248043delinsGC GRCh37
NC_000012.10:g.101772172_101772173delinsGC NCBI36
NG_008690.1:g.68338_68339delinsGC
NG_008690.2:g.109146_109147delinsGC

Transcript Alleles

HGVS Amino-acid Change
ENST00000553106.6:c.706+871_706+872delinsGC MANE Select ENSP00000448059.1:n.706+871_706+872delinsGC
ENST00000307000.7:c.691+871_691+872delinsGC ENSP00000303500.2:n.691+871_691+872delinsGC
ENST00000553106.5:c.706+871_706+872delinsGC ENSP00000448059.1:n.706+871_706+872delinsGC
NM_000277.1:c.706+871_706+872delinsGC NP_000268.1:n.706+871_706+872delinsGC
XM_011538422.1:c.706+871_706+872delinsGC XP_011536724.1:n.706+871_706+872delinsGC
NM_000277.2:c.706+871_706+872delinsGC NP_000268.1:n.706+871_706+872delinsGC
NM_001354304.1:c.706+871_706+872delinsGC NP_001341233.1:n.706+871_706+872delinsGC
XM_017019370.2:c.*520_*521delinsGC XP_016874859.1:n.*520_*521delinsGC
NM_000277.3:c.706+871_706+872delinsGC MANE Select NP_000268.1:n.706+871_706+872delinsGC
NM_001354304.2:c.706+871_706+872delinsGC NP_001341233.1:n.706+871_706+872delinsGC
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