Canonical Allele Identifier: CA913769913
Gene: PAH HGNC NCBI

Linked Data

gnomAD v2: 12-103259863-A-AAAAAC
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102866089_102866090insCAAAA , CM000674.2:g.102866089_102866090insCAAAA GRCh38
NC_000012.11:g.103259867_103259868insCAAAA , CM000674.1:g.103259867_103259868insCAAAA GRCh37
NC_000012.10:g.101783997_101783998insCAAAA NCBI36
NG_008690.1:g.56517_56518insGTTTT
NG_008690.2:g.97325_97326insGTTTT

Transcript Alleles

HGVS Amino-acid Change
ENST00000553106.6:c.509+510_509+511insGTTTT MANE Select ENSP00000448059.1:n.509+510_509+511insGTTTT
ENST00000307000.7:c.494+510_494+511insGTTTT ENSP00000303500.2:n.494+510_494+511insGTTTT
ENST00000549111.5:n.605+510_605+511insGTTTT
ENST00000551988.5:n.531-10754_531-10753insGTTTT
ENST00000553106.5:c.509+510_509+511insGTTTT ENSP00000448059.1:n.509+510_509+511insGTTTT
NM_000277.1:c.509+510_509+511insGTTTT NP_000268.1:n.509+510_509+511insGTTTT
XM_011538422.1:c.509+510_509+511insGTTTT XP_011536724.1:n.509+510_509+511insGTTTT
NM_000277.2:c.509+510_509+511insGTTTT NP_000268.1:n.509+510_509+511insGTTTT
NM_001354304.1:c.509+510_509+511insGTTTT NP_001341233.1:n.509+510_509+511insGTTTT
XM_017019370.2:c.509+510_509+511insGTTTT XP_016874859.1:n.509+510_509+511insGTTTT
NM_000277.3:c.509+510_509+511insGTTTT MANE Select NP_000268.1:n.509+510_509+511insGTTTT
NM_001354304.2:c.509+510_509+511insGTTTT NP_001341233.1:n.509+510_509+511insGTTTT
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