Canonical Allele Identifier: CA2620525438
Community Standard Title: NM_000277.3(PAH):c.706+365_706+366del
Gene: PAH HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102854776_102854777del , CM000674.2:g.102854776_102854777del GRCh38
NC_000012.11:g.103248554_103248555del , CM000674.1:g.103248554_103248555del GRCh37
NC_000012.10:g.101772684_101772685del NCBI36
NG_008690.1:g.67832_67833del
NG_008690.2:g.108640_108641del

Transcript Alleles

HGVS Amino-acid Change
NM_000277.3:c.706+365_706+366del MANE Select NP_000268.1:n.706+365_706+366del
ENST00000553106.6:c.706+365_706+366del MANE Select ENSP00000448059.1:n.706+365_706+366del
NM_000277.1:c.706+365_706+366del NP_000268.1:n.706+365_706+366del
NM_000277.2:c.706+365_706+366del NP_000268.1:n.706+365_706+366del
NM_001354304.1:c.706+365_706+366del NP_001341233.1:n.706+365_706+366del
NM_001354304.2:c.706+365_706+366del NP_001341233.1:n.706+365_706+366del
ENST00000307000.7:c.691+365_691+366del ENSP00000303500.2:n.691+365_691+366del
ENST00000549111.5:n.1167_1168del
ENST00000553106.5:c.706+365_706+366del ENSP00000448059.1:n.706+365_706+366del
XM_011538422.1:c.706+365_706+366del XP_011536724.1:n.706+365_706+366del
XM_017019370.2:c.*14_*15del XP_016874859.1:n.*14_*15del
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