Canonical Allele Identifier: CA2797242228
Gene: PAH HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102894976_102894979del , CM000674.2:g.102894976_102894979del GRCh38
NC_000012.11:g.103288754_103288757del , CM000674.1:g.103288754_103288757del GRCh37
NC_000012.10:g.101812884_101812887del NCBI36
NG_008690.1:g.27624_27627del
NG_008690.2:g.68432_68435del

Transcript Alleles

HGVS Amino-acid Change
ENST00000553106.6:c.169-61_169-58del MANE Select ENSP00000448059.1:n.169-61_169-58del
ENST00000307000.7:c.154-61_154-58del ENSP00000303500.2:n.154-61_154-58del
ENST00000546844.1:c.169-61_169-58del ENSP00000446658.1:n.169-61_169-58del
ENST00000548677.2:n.256-61_256-58del
ENST00000548928.1:n.91-61_91-58del
ENST00000549111.5:n.265-61_265-58del
ENST00000550978.6:c.153-61_153-58del
ENST00000551337.5:c.169-61_169-58del ENSP00000447620.1:n.169-61_169-58del
ENST00000551988.5:n.258-61_258-58del
ENST00000553106.5:c.169-61_169-58del ENSP00000448059.1:n.169-61_169-58del
ENST00000635500.1:n.137-61_137-58del
NM_000277.1:c.169-61_169-58del NP_000268.1:n.169-61_169-58del
XM_011538422.1:c.169-61_169-58del XP_011536724.1:n.169-61_169-58del
NM_000277.2:c.169-61_169-58del NP_000268.1:n.169-61_169-58del
NM_001354304.1:c.169-61_169-58del NP_001341233.1:n.169-61_169-58del
XM_017019370.2:c.169-61_169-58del XP_016874859.1:n.169-61_169-58del
NM_000277.3:c.169-61_169-58del MANE Select NP_000268.1:n.169-61_169-58del
NM_001354304.2:c.169-61_169-58del NP_001341233.1:n.169-61_169-58del
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