Canonical Allele Identifier: CA2059448045
Gene: PAH HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102854276_102854277delinsGC , CM000674.2:g.102854276_102854277delinsGC GRCh38
NC_000012.11:g.103248054_103248055delinsGC , CM000674.1:g.103248054_103248055delinsGC GRCh37
NC_000012.10:g.101772184_101772185delinsGC NCBI36
NG_008690.1:g.68326_68327delinsGC
NG_008690.2:g.109134_109135delinsGC

Transcript Alleles

HGVS Amino-acid Change
ENST00000553106.6:c.706+859_706+860delinsGC MANE Select ENSP00000448059.1:n.706+859_706+860delinsGC
ENST00000307000.7:c.691+859_691+860delinsGC ENSP00000303500.2:n.691+859_691+860delinsGC
ENST00000553106.5:c.706+859_706+860delinsGC ENSP00000448059.1:n.706+859_706+860delinsGC
NM_000277.1:c.706+859_706+860delinsGC NP_000268.1:n.706+859_706+860delinsGC
XM_011538422.1:c.706+859_706+860delinsGC XP_011536724.1:n.706+859_706+860delinsGC
NM_000277.2:c.706+859_706+860delinsGC NP_000268.1:n.706+859_706+860delinsGC
NM_001354304.1:c.706+859_706+860delinsGC NP_001341233.1:n.706+859_706+860delinsGC
XM_017019370.2:c.*508_*509delinsGC XP_016874859.1:n.*508_*509delinsGC
NM_000277.3:c.706+859_706+860delinsGC MANE Select NP_000268.1:n.706+859_706+860delinsGC
NM_001354304.2:c.706+859_706+860delinsGC NP_001341233.1:n.706+859_706+860delinsGC
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