Canonical Allele Identifier: CA2979026904
Community Standard Title: NM_000277.3(PAH):c.509+503_509+504insCTTT
Gene: PAH HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102866095_102866096insGAAA , CM000674.2:g.102866095_102866096insGAAA GRCh38
NC_000012.11:g.103259873_103259874insGAAA , CM000674.1:g.103259873_103259874insGAAA GRCh37
NC_000012.10:g.101784003_101784004insGAAA NCBI36
NG_008690.1:g.56510_56511insCTTT
NG_008690.2:g.97318_97319insCTTT

Transcript Alleles

HGVS Amino-acid Change
NM_000277.3:c.509+503_509+504insCTTT MANE Select NP_000268.1:n.509+503_509+504insCTTT
ENST00000553106.6:c.509+503_509+504insCTTT MANE Select ENSP00000448059.1:n.509+503_509+504insCTTT
NM_000277.1:c.509+503_509+504insCTTT NP_000268.1:n.509+503_509+504insCTTT
NM_000277.2:c.509+503_509+504insCTTT NP_000268.1:n.509+503_509+504insCTTT
NM_001354304.1:c.509+503_509+504insCTTT NP_001341233.1:n.509+503_509+504insCTTT
NM_001354304.2:c.509+503_509+504insCTTT NP_001341233.1:n.509+503_509+504insCTTT
ENST00000307000.7:c.494+503_494+504insCTTT ENSP00000303500.2:n.494+503_494+504insCTTT
ENST00000549111.5:n.605+503_605+504insCTTT
ENST00000551988.5:n.531-10761_531-10760insCTTT
ENST00000553106.5:c.509+503_509+504insCTTT ENSP00000448059.1:n.509+503_509+504insCTTT
XM_011538422.1:c.509+503_509+504insCTTT XP_011536724.1:n.509+503_509+504insCTTT
XM_017019370.2:c.509+503_509+504insCTTT XP_016874859.1:n.509+503_509+504insCTTT
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