Canonical Allele Identifier: CA2797243733
Gene: PAH HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102854876_102854877insT , CM000674.2:g.102854876_102854877insT GRCh38
NC_000012.11:g.103248654_103248655insT , CM000674.1:g.103248654_103248655insT GRCh37
NC_000012.10:g.101772784_101772785insT NCBI36
NG_008690.1:g.67726_67727insA
NG_008690.2:g.108534_108535insA

Transcript Alleles

HGVS Amino-acid Change
ENST00000553106.6:c.706+259_706+260insA MANE Select ENSP00000448059.1:n.706+259_706+260insA
ENST00000307000.7:c.691+259_691+260insA ENSP00000303500.2:n.691+259_691+260insA
ENST00000549111.5:n.1061_1062insA
ENST00000553106.5:c.706+259_706+260insA ENSP00000448059.1:n.706+259_706+260insA
NM_000277.1:c.706+259_706+260insA NP_000268.1:n.706+259_706+260insA
XM_011538422.1:c.706+259_706+260insA XP_011536724.1:n.706+259_706+260insA
NM_000277.2:c.706+259_706+260insA NP_000268.1:n.706+259_706+260insA
NM_001354304.1:c.706+259_706+260insA NP_001341233.1:n.706+259_706+260insA
XM_017019370.2:c.707-76_707-75insA XP_016874859.1:n.707-76_707-75insA
NM_000277.3:c.706+259_706+260insA MANE Select NP_000268.1:n.706+259_706+260insA
NM_001354304.2:c.706+259_706+260insA NP_001341233.1:n.706+259_706+260insA
Search 100 bp 5'
Search 100 bp 3'