Canonical Allele Identifier: CA2059456605
Gene: PAH HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102865770_102865771delinsAT , CM000674.2:g.102865770_102865771delinsAT GRCh38
NC_000012.11:g.103259548_103259549delinsAT , CM000674.1:g.103259548_103259549delinsAT GRCh37
NC_000012.10:g.101783678_101783679delinsAT NCBI36
NG_008690.1:g.56832_56833delinsAT
NG_008690.2:g.97640_97641delinsAT

Transcript Alleles

HGVS Amino-acid Change
ENST00000553106.6:c.509+825_509+826delinsAT MANE Select ENSP00000448059.1:n.509+825_509+826delinsAT
ENST00000307000.7:c.494+825_494+826delinsAT ENSP00000303500.2:n.494+825_494+826delinsAT
ENST00000549111.5:n.605+825_605+826delinsAT
ENST00000551988.5:n.531-10439_531-10438delinsAT
ENST00000553106.5:c.509+825_509+826delinsAT ENSP00000448059.1:n.509+825_509+826delinsAT
NM_000277.1:c.509+825_509+826delinsAT NP_000268.1:n.509+825_509+826delinsAT
XM_011538422.1:c.509+825_509+826delinsAT XP_011536724.1:n.509+825_509+826delinsAT
NM_000277.2:c.509+825_509+826delinsAT NP_000268.1:n.509+825_509+826delinsAT
NM_001354304.1:c.509+825_509+826delinsAT NP_001341233.1:n.509+825_509+826delinsAT
XM_017019370.2:c.509+825_509+826delinsAT XP_016874859.1:n.509+825_509+826delinsAT
NM_000277.3:c.509+825_509+826delinsAT MANE Select NP_000268.1:n.509+825_509+826delinsAT
NM_001354304.2:c.509+825_509+826delinsAT NP_001341233.1:n.509+825_509+826delinsAT
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