Canonical Allele Identifier: CA3021979918
Community Standard Title: NM_000277.3(PAH):c.706+541del
Gene: PAH HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102854595del , CM000674.2:g.102854595del GRCh38
NC_000012.11:g.103248373del , CM000674.1:g.103248373del GRCh37
NC_000012.10:g.101772503del NCBI36
NG_008690.1:g.68008del
NG_008690.2:g.108816del

Transcript Alleles

HGVS Amino-acid Change
NM_000277.3:c.706+541del MANE Select NP_000268.1:n.706+541del
ENST00000553106.6:c.706+541del MANE Select ENSP00000448059.1:n.706+541del
NM_000277.1:c.706+541del NP_000268.1:n.706+541del
NM_000277.2:c.706+541del NP_000268.1:n.706+541del
NM_001354304.1:c.706+541del NP_001341233.1:n.706+541del
NM_001354304.2:c.706+541del NP_001341233.1:n.706+541del
ENST00000307000.7:c.691+541del ENSP00000303500.2:n.691+541del
ENST00000553106.5:c.706+541del ENSP00000448059.1:n.706+541del
XM_011538422.1:c.706+541del XP_011536724.1:n.706+541del
XM_017019370.2:c.*190del XP_016874859.1:n.*190del
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