Canonical Allele Identifier: CA2059467314
Gene: PAH HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102894956_102894957delinsTG , CM000674.2:g.102894956_102894957delinsTG GRCh38
NC_000012.11:g.103288734_103288735delinsTG , CM000674.1:g.103288734_103288735delinsTG GRCh37
NC_000012.10:g.101812864_101812865delinsTG NCBI36
NG_008690.1:g.27646_27647delinsCA
NG_008690.2:g.68454_68455delinsCA

Transcript Alleles

HGVS Amino-acid Change
ENST00000553106.6:c.169-39_169-38delinsCA MANE Select ENSP00000448059.1:n.169-39_169-38delinsCA
ENST00000307000.7:c.154-39_154-38delinsCA ENSP00000303500.2:n.154-39_154-38delinsCA
ENST00000546844.1:c.169-39_169-38delinsCA ENSP00000446658.1:n.169-39_169-38delinsCA
ENST00000548677.2:n.256-39_256-38delinsCA
ENST00000548928.1:n.91-39_91-38delinsCA
ENST00000549111.5:n.265-39_265-38delinsCA
ENST00000550978.6:c.153-39_153-38delinsCA
ENST00000551337.5:c.169-39_169-38delinsCA ENSP00000447620.1:n.169-39_169-38delinsCA
ENST00000551988.5:n.258-39_258-38delinsCA
ENST00000553106.5:c.169-39_169-38delinsCA ENSP00000448059.1:n.169-39_169-38delinsCA
ENST00000635500.1:n.137-39_137-38delinsCA
NM_000277.1:c.169-39_169-38delinsCA NP_000268.1:n.169-39_169-38delinsCA
XM_011538422.1:c.169-39_169-38delinsCA XP_011536724.1:n.169-39_169-38delinsCA
NM_000277.2:c.169-39_169-38delinsCA NP_000268.1:n.169-39_169-38delinsCA
NM_001354304.1:c.169-39_169-38delinsCA NP_001341233.1:n.169-39_169-38delinsCA
XM_017019370.2:c.169-39_169-38delinsCA XP_016874859.1:n.169-39_169-38delinsCA
NM_000277.3:c.169-39_169-38delinsCA MANE Select NP_000268.1:n.169-39_169-38delinsCA
NM_001354304.2:c.169-39_169-38delinsCA NP_001341233.1:n.169-39_169-38delinsCA
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