Canonical Allele Identifier: CA951241268
Gene: PAH HGNC NCBI

Linked Data

gnomAD v3: 12-102866082-G-GAAAAA
gnomAD v4: 12-102866082-G-GAAAAA
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102866082_102866083insAAAAA , CM000674.2:g.102866082_102866083insAAAAA GRCh38
NC_000012.11:g.103259860_103259861insAAAAA , CM000674.1:g.103259860_103259861insAAAAA GRCh37
NC_000012.10:g.101783990_101783991insAAAAA NCBI36
NG_008690.1:g.56520_56521insTTTTT
NG_008690.2:g.97328_97329insTTTTT

Transcript Alleles

HGVS Amino-acid Change
ENST00000553106.6:c.509+513_509+514insTTTTT MANE Select ENSP00000448059.1:n.509+513_509+514insTTTTT
ENST00000307000.7:c.494+513_494+514insTTTTT ENSP00000303500.2:n.494+513_494+514insTTTTT
ENST00000549111.5:n.605+513_605+514insTTTTT
ENST00000551988.5:n.531-10751_531-10750insTTTTT
ENST00000553106.5:c.509+513_509+514insTTTTT ENSP00000448059.1:n.509+513_509+514insTTTTT
NM_000277.1:c.509+513_509+514insTTTTT NP_000268.1:n.509+513_509+514insTTTTT
XM_011538422.1:c.509+513_509+514insTTTTT XP_011536724.1:n.509+513_509+514insTTTTT
NM_000277.2:c.509+513_509+514insTTTTT NP_000268.1:n.509+513_509+514insTTTTT
NM_001354304.1:c.509+513_509+514insTTTTT NP_001341233.1:n.509+513_509+514insTTTTT
XM_017019370.2:c.509+513_509+514insTTTTT XP_016874859.1:n.509+513_509+514insTTTTT
NM_000277.3:c.509+513_509+514insTTTTT MANE Select NP_000268.1:n.509+513_509+514insTTTTT
NM_001354304.2:c.509+513_509+514insTTTTT NP_001341233.1:n.509+513_509+514insTTTTT
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