Canonical Allele Identifier: CA10605023

Gene: SLC9A9

Linked Data

• ClinVar Variation Id: 285172
• ClinVar RCV Id: RCV000385425
• dbSNP Id: rs886043034
• MyVariant Identifiers: chr3:g.143412143del (hg19) ; chr3:g.143693301del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.143693302del , CM000665.2:g.143693302del	GRCh38
NC_000003.11:g.143412144del , CM000665.1:g.143412144del	GRCh37
NC_000003.10:g.144894834del	NCBI36
NG_017077.1:g.160231del
NG_017077.2:g.160231del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000316549.11:c.540del MANE Select	ENSP00000320246.6:p.Met181CysfsTer5
ENST00000316549.10:c.540del	ENSP00000320246.6:p.Met181CysfsTer5
ENST00000474727.2:c.*151del	ENSP00000419090.2:n.*151del
ENST00000483124.1:n.77del
NM_173653.3:c.540del	NP_775924.1:p.Met181CysfsTer5
XM_011512704.1:c.540del	XP_011511006.1:p.Met181CysfsTer5
XM_011512704.3:c.540del	XP_011511006.1:p.Met181CysfsTer5
XM_017006202.2:c.540del	XP_016861691.1:p.Met181CysfsTer5
XM_017006203.1:c.189del	XP_016861692.1:p.Met64CysfsTer5
NM_173653.4:c.540del MANE Select	NP_775924.1:p.Met181CysfsTer5