Canonical Allele Identifier: CA2620508848
Gene: PAH HGNC NCBI

Linked Data

gnomAD v4: 12-102895056-A-AT
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102895056_102895057insT , CM000674.2:g.102895056_102895057insT GRCh38
NC_000012.11:g.103288834_103288835insT , CM000674.1:g.103288834_103288835insT GRCh37
NC_000012.10:g.101812964_101812965insT NCBI36
NG_008690.1:g.27546_27547insA
NG_008690.2:g.68354_68355insA

Transcript Alleles

HGVS Amino-acid Change
ENST00000553106.6:c.169-139_169-138insA MANE Select ENSP00000448059.1:n.169-139_169-138insA
ENST00000307000.7:c.154-139_154-138insA ENSP00000303500.2:n.154-139_154-138insA
ENST00000546844.1:c.169-139_169-138insA ENSP00000446658.1:n.169-139_169-138insA
ENST00000548677.2:n.256-139_256-138insA
ENST00000548928.1:n.91-139_91-138insA
ENST00000549111.5:n.265-139_265-138insA
ENST00000550978.6:c.153-139_153-138insA
ENST00000551337.5:c.169-139_169-138insA ENSP00000447620.1:n.169-139_169-138insA
ENST00000551988.5:n.258-139_258-138insA
ENST00000553106.5:c.169-139_169-138insA ENSP00000448059.1:n.169-139_169-138insA
ENST00000635500.1:n.137-139_137-138insA
NM_000277.1:c.169-139_169-138insA NP_000268.1:n.169-139_169-138insA
XM_011538422.1:c.169-139_169-138insA XP_011536724.1:n.169-139_169-138insA
NM_000277.2:c.169-139_169-138insA NP_000268.1:n.169-139_169-138insA
NM_001354304.1:c.169-139_169-138insA NP_001341233.1:n.169-139_169-138insA
XM_017019370.2:c.169-139_169-138insA XP_016874859.1:n.169-139_169-138insA
NM_000277.3:c.169-139_169-138insA MANE Select NP_000268.1:n.169-139_169-138insA
NM_001354304.2:c.169-139_169-138insA NP_001341233.1:n.169-139_169-138insA
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