Canonical Allele Identifier: CA203860

Gene: SSR4

Linked Data

• ClinVar Variation Id: 372144
• ClinVar RCV Id: RCV000412666
• dbSNP Id: rs794729223
• MyVariant Identifiers: chrX:g.153063532_153063533del (hg19) ; chrX:g.153063530_153063531del (hg19) ; chrX:g.153798077_153798078del (hg38) ; chrX:g.153798075_153798076del (hg38)
• PubMed: PMID:24218363 ; PMID:26264460

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.153798077_153798078del , CM000685.2:g.153798077_153798078del	GRCh38
NC_000023.10:g.153063532_153063533del , CM000685.1:g.153063532_153063533del	GRCh37
NC_000023.9:g.152716726_152716727del	NCBI36
NG_041795.1:g.8903_8904del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370086.8:c.358_359del MANE Select	ENSP00000359103.3:p.Arg120GlufsTer2
ENST00000320857.7:c.358_359del	ENSP00000317331.3:p.Arg120GlufsTer2
ENST00000370085.3:c.283_284del	ENSP00000359102.3:p.Arg95GlufsTer2
ENST00000370086.7:c.358_359del	ENSP00000359103.3:p.Arg120GlufsTer2
ENST00000370087.5:c.358_359del	ENSP00000359104.1:p.Arg120GlufsTer2
ENST00000447375.1:n.198_199del
ENST00000460616.5:n.2066_2067del
ENST00000471880.5:n.561_562del
ENST00000482902.5:n.2185_2186del
ENST00000485612.5:n.473_474del
ENST00000486204.5:n.430_431del
NM_001204526.1:c.391_392del	NP_001191455.1:p.Arg131GlufsTer2
NM_001204527.1:c.382_383del	NP_001191456.1:p.Arg128GlufsTer2
NM_006280.2:c.358_359del	NP_006271.1:p.Arg120GlufsTer2
NR_037927.1:n.703_704del
XM_011531186.1:c.358_359del	XP_011529488.1:p.Arg120GlufsTer2
XM_011531187.1:c.358_359del	XP_011529489.1:p.Arg120GlufsTer2
XM_017029756.1:c.169_170del	XP_016885245.1:p.Arg57GlufsTer2
XM_017029757.1:c.169_170del	XP_016885246.1:p.Arg57GlufsTer2
XM_024452428.1:c.169_170del	XP_024308196.1:p.Arg57GlufsTer2
NM_001204527.2:c.382_383del	NP_001191456.1:p.Arg128GlufsTer2
NM_006280.3:c.358_359del MANE Select	NP_006271.1:p.Arg120GlufsTer2