Canonical Allele Identifier: CA2979030300
Gene: PAH HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102912716_102912717insT , CM000674.2:g.102912716_102912717insT GRCh38
NC_000012.11:g.103306494_103306495insT , CM000674.1:g.103306494_103306495insT GRCh37
NC_000012.10:g.101830624_101830625insT NCBI36
NG_008690.1:g.9886_9887insA
NG_008690.2:g.50694_50695insA

Transcript Alleles

HGVS Amino-acid Change
ENST00000553106.6:c.168+74_168+75insA MANE Select ENSP00000448059.1:n.168+74_168+75insA
ENST00000307000.7:c.153+74_153+75insA ENSP00000303500.2:n.153+74_153+75insA
ENST00000546844.1:c.168+74_168+75insA ENSP00000446658.1:n.168+74_168+75insA
ENST00000548677.2:n.255+74_255+75insA
ENST00000548928.1:n.90+74_90+75insA
ENST00000549111.5:n.264+74_264+75insA
ENST00000550978.6:c.152+74_152+75insA
ENST00000551337.5:c.168+74_168+75insA ENSP00000447620.1:n.168+74_168+75insA
ENST00000551988.5:n.257+74_257+75insA
ENST00000553106.5:c.168+74_168+75insA ENSP00000448059.1:n.168+74_168+75insA
ENST00000635500.1:n.136+74_136+75insA
NM_000277.1:c.168+74_168+75insA NP_000268.1:n.168+74_168+75insA
XM_011538422.1:c.168+74_168+75insA XP_011536724.1:n.168+74_168+75insA
NM_000277.2:c.168+74_168+75insA NP_000268.1:n.168+74_168+75insA
NM_001354304.1:c.168+74_168+75insA NP_001341233.1:n.168+74_168+75insA
XM_017019370.2:c.168+74_168+75insA XP_016874859.1:n.168+74_168+75insA
NM_000277.3:c.168+74_168+75insA MANE Select NP_000268.1:n.168+74_168+75insA
NM_001354304.2:c.168+74_168+75insA NP_001341233.1:n.168+74_168+75insA
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