Canonical Allele Identifier: CA3021980315
Gene: PAH HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102854813_102854814insAAAAACAAAA , CM000674.2:g.102854813_102854814insAAAAACAAAA GRCh38
NC_000012.11:g.103248591_103248592insAAAAACAAAA , CM000674.1:g.103248591_103248592insAAAAACAAAA GRCh37
NC_000012.10:g.101772721_101772722insAAAAACAAAA NCBI36
NG_008690.1:g.67792_67793insTGTTTTTTTT
NG_008690.2:g.108600_108601insTGTTTTTTTT

Transcript Alleles

HGVS Amino-acid Change
ENST00000553106.6:c.706+325_706+326insTGTTTTTTTT MANE Select ENSP00000448059.1:n.706+325_706+326insTGTTTTTTTT
ENST00000307000.7:c.691+325_691+326insTGTTTTTTTT ENSP00000303500.2:n.691+325_691+326insTGTTTTTTTT
ENST00000549111.5:n.1127_1128insTGTTTTTTTT
ENST00000553106.5:c.706+325_706+326insTGTTTTTTTT ENSP00000448059.1:n.706+325_706+326insTGTTTTTTTT
NM_000277.1:c.706+325_706+326insTGTTTTTTTT NP_000268.1:n.706+325_706+326insTGTTTTTTTT
XM_011538422.1:c.706+325_706+326insTGTTTTTTTT XP_011536724.1:n.706+325_706+326insTGTTTTTTTT
NM_000277.2:c.706+325_706+326insTGTTTTTTTT NP_000268.1:n.706+325_706+326insTGTTTTTTTT
NM_001354304.1:c.706+325_706+326insTGTTTTTTTT NP_001341233.1:n.706+325_706+326insTGTTTTTTTT
XM_017019370.2:c.707-10_707-9insTGTTTTTTTT XP_016874859.1:n.707-10_707-9insTGTTTTTTTT
NM_000277.3:c.706+325_706+326insTGTTTTTTTT MANE Select NP_000268.1:n.706+325_706+326insTGTTTTTTTT
NM_001354304.2:c.706+325_706+326insTGTTTTTTTT NP_001341233.1:n.706+325_706+326insTGTTTTTTTT
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