Canonical Allele Identifier: CA2059467294
Gene: PAH HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102894932_102894934delinsTGG , CM000674.2:g.102894932_102894934delinsTGG GRCh38
NC_000012.11:g.103288710_103288712delinsTGG , CM000674.1:g.103288710_103288712delinsTGG GRCh37
NC_000012.10:g.101812840_101812842delinsTGG NCBI36
NG_008690.1:g.27669_27671delinsCCA
NG_008690.2:g.68477_68479delinsCCA

Transcript Alleles

HGVS Amino-acid change
ENST00000553106.6:c.169-16_169-14delinsCCA MANE Select ENSP00000448059.1:n.169-16_169-14delinsCC...
ENST00000307000.7:c.154-16_154-14delinsCCA ENSP00000303500.2:n.154-16_154-14delinsCC...
ENST00000546844.1:c.169-16_169-14delinsCCA ENSP00000446658.1:n.169-16_169-14delinsCC...
ENST00000548677.2:n.256-16_256-14delinsCCA
ENST00000548928.1:n.91-16_91-14delinsCCA
ENST00000549111.5:n.265-16_265-14delinsCCA
ENST00000550978.6:c.153-16_153-14delinsCCA
ENST00000551337.5:c.169-16_169-14delinsCCA ENSP00000447620.1:n.169-16_169-14delinsCC...
ENST00000551988.5:n.258-16_258-14delinsCCA
ENST00000553106.5:c.169-16_169-14delinsCCA ENSP00000448059.1:n.169-16_169-14delinsCC...
ENST00000635500.1:n.137-16_137-14delinsCCA
NM_000277.1:c.169-16_169-14delinsCCA NP_000268.1:n.169-16_169-14delinsCCA
XM_011538422.1:c.169-16_169-14delinsCCA XP_011536724.1:n.169-16_169-14delinsCCA
NM_000277.2:c.169-16_169-14delinsCCA NP_000268.1:n.169-16_169-14delinsCCA
NM_001354304.1:c.169-16_169-14delinsCCA NP_001341233.1:n.169-16_169-14delinsCCA
XM_017019370.2:c.169-16_169-14delinsCCA XP_016874859.1:n.169-16_169-14delinsCCA
NM_000277.3:c.169-16_169-14delinsCCA MANE Select NP_000268.1:n.169-16_169-14delinsCCA
NM_001354304.2:c.169-16_169-14delinsCCA NP_001341233.1:n.169-16_169-14delinsCCA
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