Canonical Allele Identifier: CA2580068897
Community Standard Title: NM_173653.4(SLC9A9):c.119del (p.Leu40TyrfsTer22)
Gene: SLC9A9 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.143848205del , CM000665.2:g.143848205del GRCh38
NC_000003.11:g.143567047del , CM000665.1:g.143567047del GRCh37
NC_000003.10:g.145049737del NCBI36
NG_017077.1:g.5328del
NG_017077.2:g.5328del

Transcript Alleles

HGVS Amino-acid Change
NM_173653.4:c.119del MANE Select NP_775924.1:p.Leu40TyrfsTer22
ENST00000316549.11:c.119del MANE Select ENSP00000320246.6:p.Leu40TyrfsTer22
NM_173653.3:c.119del NP_775924.1:p.Leu40TyrfsTer22
ENST00000316549.10:c.119del ENSP00000320246.6:p.Leu40TyrfsTer22
ENST00000474151.1:c.119del ENSP00000418627.1:p.Leu40TyrfsTer22
ENST00000474727.2:c.119del ENSP00000419090.2:p.Leu40TyrfsTer?
ENST00000498717.2:n.266del
XM_011512704.1:c.119del XP_011511006.1:p.Leu40TyrfsTer22
XM_011512704.3:c.119del XP_011511006.1:p.Leu40TyrfsTer22
XM_017006202.2:c.119del XP_016861691.1:p.Leu40TyrfsTer22
XM_017006203.1:c.-30del XP_016861692.1:n.-30del