Canonical Allele Identifier: CA2059476118
Gene: PAH HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102917015_102917017delinsCTT , CM000674.2:g.102917015_102917017delinsCTT GRCh38
NC_000012.11:g.103310793_103310795delinsCTT , CM000674.1:g.103310793_103310795delinsCTT GRCh37
NC_000012.10:g.101834923_101834925delinsCTT NCBI36
NG_008690.1:g.5586_5588delinsAAG
NG_008690.2:g.46394_46396delinsAAG

Transcript Alleles

HGVS Amino-acid Change
ENST00000553106.6:c.60+54_60+56delinsAAG MANE Select ENSP00000448059.1:n.60+54_60+56delinsAAG
ENST00000307000.7:c.-88+54_-88+56delinsAAG ENSP00000303500.2:n.-88+54_-88+56delinsAAG
ENST00000546844.1:c.60+54_60+56delinsAAG ENSP00000446658.1:n.60+54_60+56delinsAAG
ENST00000547319.1:n.371+54_371+56delinsAAG
ENST00000549111.5:n.156+54_156+56delinsAAG
ENST00000550978.6:c.44+54_44+56delinsAAG
ENST00000551337.5:c.60+54_60+56delinsAAG ENSP00000447620.1:n.60+54_60+56delinsAAG
ENST00000551988.5:n.149+54_149+56delinsAAG
ENST00000553106.5:c.60+54_60+56delinsAAG ENSP00000448059.1:n.60+54_60+56delinsAAG
ENST00000635500.1:n.29-4119_29-4117delinsAAG
NM_000277.1:c.60+54_60+56delinsAAG NP_000268.1:n.60+54_60+56delinsAAG
XM_011538422.1:c.60+54_60+56delinsAAG XP_011536724.1:n.60+54_60+56delinsAAG
NM_000277.2:c.60+54_60+56delinsAAG NP_000268.1:n.60+54_60+56delinsAAG
NM_001354304.1:c.60+54_60+56delinsAAG NP_001341233.1:n.60+54_60+56delinsAAG
XM_017019370.2:c.60+54_60+56delinsAAG XP_016874859.1:n.60+54_60+56delinsAAG
NM_000277.3:c.60+54_60+56delinsAAG MANE Select NP_000268.1:n.60+54_60+56delinsAAG
NM_001354304.2:c.60+54_60+56delinsAAG NP_001341233.1:n.60+54_60+56delinsAAG
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