Canonical Allele Identifier: CA2620525452
Community Standard Title: NM_000277.3(PAH):c.706+358_706+360del
Gene: PAH HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102854776_102854778del , CM000674.2:g.102854776_102854778del GRCh38
NC_000012.11:g.103248554_103248556del , CM000674.1:g.103248554_103248556del GRCh37
NC_000012.10:g.101772684_101772686del NCBI36
NG_008690.1:g.67825_67827del
NG_008690.2:g.108633_108635del

Transcript Alleles

HGVS Amino-acid Change
NM_000277.3:c.706+358_706+360del MANE Select NP_000268.1:n.706+358_706+360del
ENST00000553106.6:c.706+358_706+360del MANE Select ENSP00000448059.1:n.706+358_706+360del
NM_000277.1:c.706+358_706+360del NP_000268.1:n.706+358_706+360del
NM_000277.2:c.706+358_706+360del NP_000268.1:n.706+358_706+360del
NM_001354304.1:c.706+358_706+360del NP_001341233.1:n.706+358_706+360del
NM_001354304.2:c.706+358_706+360del NP_001341233.1:n.706+358_706+360del
ENST00000307000.7:c.691+358_691+360del ENSP00000303500.2:n.691+358_691+360del
ENST00000549111.5:n.1160_1162del
ENST00000553106.5:c.706+358_706+360del ENSP00000448059.1:n.706+358_706+360del
XM_011538422.1:c.706+358_706+360del XP_011536724.1:n.706+358_706+360del
XM_017019370.2:c.*7_*9del XP_016874859.1:n.*7_*9del
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