Canonical Allele Identifier: CA2059467486
Gene: PAH HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102895132_102895133delinsTA , CM000674.2:g.102895132_102895133delinsTA GRCh38
NC_000012.11:g.103288910_103288911delinsTA , CM000674.1:g.103288910_103288911delinsTA GRCh37
NC_000012.10:g.101813040_101813041delinsTA NCBI36
NG_008690.1:g.27470_27471delinsTA
NG_008690.2:g.68278_68279delinsTA

Transcript Alleles

HGVS Amino-acid Change
ENST00000553106.6:c.169-215_169-214delinsTA MANE Select ENSP00000448059.1:n.169-215_169-214delinsTA
ENST00000307000.7:c.154-215_154-214delinsTA ENSP00000303500.2:n.154-215_154-214delinsTA
ENST00000546844.1:c.169-215_169-214delinsTA ENSP00000446658.1:n.169-215_169-214delinsTA
ENST00000548677.2:n.256-215_256-214delinsTA
ENST00000548928.1:n.91-215_91-214delinsTA
ENST00000549111.5:n.265-215_265-214delinsTA
ENST00000550978.6:c.153-215_153-214delinsTA
ENST00000551337.5:c.169-215_169-214delinsTA ENSP00000447620.1:n.169-215_169-214delinsTA
ENST00000551988.5:n.258-215_258-214delinsTA
ENST00000553106.5:c.169-215_169-214delinsTA ENSP00000448059.1:n.169-215_169-214delinsTA
ENST00000635500.1:n.137-215_137-214delinsTA
NM_000277.1:c.169-215_169-214delinsTA NP_000268.1:n.169-215_169-214delinsTA
XM_011538422.1:c.169-215_169-214delinsTA XP_011536724.1:n.169-215_169-214delinsTA
NM_000277.2:c.169-215_169-214delinsTA NP_000268.1:n.169-215_169-214delinsTA
NM_001354304.1:c.169-215_169-214delinsTA NP_001341233.1:n.169-215_169-214delinsTA
XM_017019370.2:c.169-215_169-214delinsTA XP_016874859.1:n.169-215_169-214delinsTA
NM_000277.3:c.169-215_169-214delinsTA MANE Select NP_000268.1:n.169-215_169-214delinsTA
NM_001354304.2:c.169-215_169-214delinsTA NP_001341233.1:n.169-215_169-214delinsTA
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