Canonical Allele Identifier: CA2059467369
Gene: PAH HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102895018_102895019delinsGA , CM000674.2:g.102895018_102895019delinsGA GRCh38
NC_000012.11:g.103288796_103288797delinsGA , CM000674.1:g.103288796_103288797delinsGA GRCh37
NC_000012.10:g.101812926_101812927delinsGA NCBI36
NG_008690.1:g.27584_27585delinsTC
NG_008690.2:g.68392_68393delinsTC

Transcript Alleles

HGVS Amino-acid Change
ENST00000553106.6:c.169-101_169-100delinsTC MANE Select ENSP00000448059.1:n.169-101_169-100delinsTC
ENST00000307000.7:c.154-101_154-100delinsTC ENSP00000303500.2:n.154-101_154-100delinsTC
ENST00000546844.1:c.169-101_169-100delinsTC ENSP00000446658.1:n.169-101_169-100delinsTC
ENST00000548677.2:n.256-101_256-100delinsTC
ENST00000548928.1:n.91-101_91-100delinsTC
ENST00000549111.5:n.265-101_265-100delinsTC
ENST00000550978.6:c.153-101_153-100delinsTC
ENST00000551337.5:c.169-101_169-100delinsTC ENSP00000447620.1:n.169-101_169-100delinsTC
ENST00000551988.5:n.258-101_258-100delinsTC
ENST00000553106.5:c.169-101_169-100delinsTC ENSP00000448059.1:n.169-101_169-100delinsTC
ENST00000635500.1:n.137-101_137-100delinsTC
NM_000277.1:c.169-101_169-100delinsTC NP_000268.1:n.169-101_169-100delinsTC
XM_011538422.1:c.169-101_169-100delinsTC XP_011536724.1:n.169-101_169-100delinsTC
NM_000277.2:c.169-101_169-100delinsTC NP_000268.1:n.169-101_169-100delinsTC
NM_001354304.1:c.169-101_169-100delinsTC NP_001341233.1:n.169-101_169-100delinsTC
XM_017019370.2:c.169-101_169-100delinsTC XP_016874859.1:n.169-101_169-100delinsTC
NM_000277.3:c.169-101_169-100delinsTC MANE Select NP_000268.1:n.169-101_169-100delinsTC
NM_001354304.2:c.169-101_169-100delinsTC NP_001341233.1:n.169-101_169-100delinsTC
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