Canonical Allele Identifier: CA2059456754
Gene: PAH HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102866129_102866130delinsAC , CM000674.2:g.102866129_102866130delinsAC GRCh38
NC_000012.11:g.103259907_103259908delinsAC , CM000674.1:g.103259907_103259908delinsAC GRCh37
NC_000012.10:g.101784037_101784038delinsAC NCBI36
NG_008690.1:g.56473_56474delinsGT
NG_008690.2:g.97281_97282delinsGT

Transcript Alleles

HGVS Amino-acid Change
ENST00000553106.6:c.509+466_509+467delinsGT MANE Select ENSP00000448059.1:n.509+466_509+467delinsGT
ENST00000307000.7:c.494+466_494+467delinsGT ENSP00000303500.2:n.494+466_494+467delinsGT
ENST00000549111.5:n.605+466_605+467delinsGT
ENST00000551988.5:n.531-10798_531-10797delinsGT
ENST00000553106.5:c.509+466_509+467delinsGT ENSP00000448059.1:n.509+466_509+467delinsGT
NM_000277.1:c.509+466_509+467delinsGT NP_000268.1:n.509+466_509+467delinsGT
XM_011538422.1:c.509+466_509+467delinsGT XP_011536724.1:n.509+466_509+467delinsGT
NM_000277.2:c.509+466_509+467delinsGT NP_000268.1:n.509+466_509+467delinsGT
NM_001354304.1:c.509+466_509+467delinsGT NP_001341233.1:n.509+466_509+467delinsGT
XM_017019370.2:c.509+466_509+467delinsGT XP_016874859.1:n.509+466_509+467delinsGT
NM_000277.3:c.509+466_509+467delinsGT MANE Select NP_000268.1:n.509+466_509+467delinsGT
NM_001354304.2:c.509+466_509+467delinsGT NP_001341233.1:n.509+466_509+467delinsGT
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