Canonical Allele Identifier: CA2059456742
Gene: PAH HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102866095_102866097delinsACC , CM000674.2:g.102866095_102866097delinsACC GRCh38
NC_000012.11:g.103259873_103259875delinsACC , CM000674.1:g.103259873_103259875delinsACC GRCh37
NC_000012.10:g.101784003_101784005delinsACC NCBI36
NG_008690.1:g.56506_56508delinsGGT
NG_008690.2:g.97314_97316delinsGGT

Transcript Alleles

HGVS Amino-acid Change
ENST00000553106.6:c.509+499_509+501delinsGGT MANE Select ENSP00000448059.1:n.509+499_509+501delinsGGT
ENST00000307000.7:c.494+499_494+501delinsGGT ENSP00000303500.2:n.494+499_494+501delinsGGT
ENST00000549111.5:n.605+499_605+501delinsGGT
ENST00000551988.5:n.531-10765_531-10763delinsGGT
ENST00000553106.5:c.509+499_509+501delinsGGT ENSP00000448059.1:n.509+499_509+501delinsGGT
NM_000277.1:c.509+499_509+501delinsGGT NP_000268.1:n.509+499_509+501delinsGGT
XM_011538422.1:c.509+499_509+501delinsGGT XP_011536724.1:n.509+499_509+501delinsGGT
NM_000277.2:c.509+499_509+501delinsGGT NP_000268.1:n.509+499_509+501delinsGGT
NM_001354304.1:c.509+499_509+501delinsGGT NP_001341233.1:n.509+499_509+501delinsGGT
XM_017019370.2:c.509+499_509+501delinsGGT XP_016874859.1:n.509+499_509+501delinsGGT
NM_000277.3:c.509+499_509+501delinsGGT MANE Select NP_000268.1:n.509+499_509+501delinsGGT
NM_001354304.2:c.509+499_509+501delinsGGT NP_001341233.1:n.509+499_509+501delinsGGT
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