Canonical Allele Identifier: CA2059456667
Gene: PAH HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102865941_102865947delinsAAACACT , CM000674.2:g.102865941_102865947delinsAAACACT GRCh38
NC_000012.11:g.103259719_103259725delinsAAACACT , CM000674.1:g.103259719_103259725delinsAAACACT GRCh37
NC_000012.10:g.101783849_101783855delinsAAACACT NCBI36
NG_008690.1:g.56656_56662delinsAGTGTTT
NG_008690.2:g.97464_97470delinsAGTGTTT

Transcript Alleles

HGVS Amino-acid Change
ENST00000553106.6:c.509+649_509+655delinsAGTGTTT MANE Select ENSP00000448059.1:n.509+649_509+655delinsAGTGTTT
ENST00000307000.7:c.494+649_494+655delinsAGTGTTT ENSP00000303500.2:n.494+649_494+655delinsAGTGTTT
ENST00000549111.5:n.605+649_605+655delinsAGTGTTT
ENST00000551988.5:n.531-10615_531-10609delinsAGTGTTT
ENST00000553106.5:c.509+649_509+655delinsAGTGTTT ENSP00000448059.1:n.509+649_509+655delinsAGTGTTT
NM_000277.1:c.509+649_509+655delinsAGTGTTT NP_000268.1:n.509+649_509+655delinsAGTGTTT
XM_011538422.1:c.509+649_509+655delinsAGTGTTT XP_011536724.1:n.509+649_509+655delinsAGTGTTT
NM_000277.2:c.509+649_509+655delinsAGTGTTT NP_000268.1:n.509+649_509+655delinsAGTGTTT
NM_001354304.1:c.509+649_509+655delinsAGTGTTT NP_001341233.1:n.509+649_509+655delinsAGTGTTT
XM_017019370.2:c.509+649_509+655delinsAGTGTTT XP_016874859.1:n.509+649_509+655delinsAGTGTTT
NM_000277.3:c.509+649_509+655delinsAGTGTTT MANE Select NP_000268.1:n.509+649_509+655delinsAGTGTTT
NM_001354304.2:c.509+649_509+655delinsAGTGTTT NP_001341233.1:n.509+649_509+655delinsAGTGTTT
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