Canonical Allele Identifier: CA2797243492
Gene: PAH HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102866075_102866076insAAAA , CM000674.2:g.102866075_102866076insAAAA GRCh38
NC_000012.11:g.103259853_103259854insAAAA , CM000674.1:g.103259853_103259854insAAAA GRCh37
NC_000012.10:g.101783983_101783984insAAAA NCBI36
NG_008690.1:g.56527_56528insTTTT
NG_008690.2:g.97335_97336insTTTT

Transcript Alleles

HGVS Amino-acid Change
ENST00000553106.6:c.509+520_509+521insTTTT MANE Select ENSP00000448059.1:n.509+520_509+521insTTTT
ENST00000307000.7:c.494+520_494+521insTTTT ENSP00000303500.2:n.494+520_494+521insTTTT
ENST00000549111.5:n.605+520_605+521insTTTT
ENST00000551988.5:n.531-10744_531-10743insTTTT
ENST00000553106.5:c.509+520_509+521insTTTT ENSP00000448059.1:n.509+520_509+521insTTTT
NM_000277.1:c.509+520_509+521insTTTT NP_000268.1:n.509+520_509+521insTTTT
XM_011538422.1:c.509+520_509+521insTTTT XP_011536724.1:n.509+520_509+521insTTTT
NM_000277.2:c.509+520_509+521insTTTT NP_000268.1:n.509+520_509+521insTTTT
NM_001354304.1:c.509+520_509+521insTTTT NP_001341233.1:n.509+520_509+521insTTTT
XM_017019370.2:c.509+520_509+521insTTTT XP_016874859.1:n.509+520_509+521insTTTT
NM_000277.3:c.509+520_509+521insTTTT MANE Select NP_000268.1:n.509+520_509+521insTTTT
NM_001354304.2:c.509+520_509+521insTTTT NP_001341233.1:n.509+520_509+521insTTTT
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