Canonical Allele Identifier: CA386303785
Gene: PAH HGNC NCBI

Linked Data

MyVariant Identifiers: chr12:g.102917044del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102917044del , CM000674.2:g.102917044del GRCh38
NC_000012.11:g.103310822del , CM000674.1:g.103310822del GRCh37
NC_000012.10:g.101834952del NCBI36
NG_008690.1:g.5559del
NG_008690.2:g.46367del

Transcript Alleles

HGVS Amino-acid change
ENST00000553106.6:c.60+27del MANE Select ENSP00000448059.1:n.60+27del
ENST00000307000.7:c.-88+27del ENSP00000303500.2:n.-88+27del
ENST00000546844.1:c.60+27del ENSP00000446658.1:n.60+27del
ENST00000547319.1:n.371+27del
ENST00000549111.5:n.156+27del
ENST00000550978.6:c.44+27del
ENST00000551337.5:c.60+27del ENSP00000447620.1:n.60+27del
ENST00000551988.5:n.149+27del
ENST00000553106.5:c.60+27del ENSP00000448059.1:n.60+27del
ENST00000635500.1:n.29-4146del
NM_000277.1:c.60+27del NP_000268.1:n.60+27del
XM_011538422.1:c.60+27del XP_011536724.1:n.60+27del
NM_000277.2:c.60+27del NP_000268.1:n.60+27del
NM_001354304.1:c.60+27del NP_001341233.1:n.60+27del
XM_017019370.2:c.60+27del XP_016874859.1:n.60+27del
NM_000277.3:c.60+27del MANE Select NP_000268.1:n.60+27del
NM_001354304.2:c.60+27del NP_001341233.1:n.60+27del
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