Canonical Allele Identifier: CA65592090

Gene: SMARCAL1

Linked Data

• ClinVar Variation Id: 1073209
• ClinVar RCV Id: RCV001386133
• dbSNP Id: rs956223874
• gnomAD v3: 2-216428638-TG-T
• gnomAD v4: 2-216428638-TG-T
• MyVariant Identifiers: chr2:g.217293362del (hg19) ; chr2:g.216428639del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.216428639del , CM000664.2:g.216428639del	GRCh38
NC_000002.11:g.217293362del , CM000664.1:g.217293362del	GRCh37
NC_000002.10:g.217001607del	NCBI36
NG_009771.1:g.21226del , LRG_108:g.21226del

Transcript Alleles

HGVS	Amino-acid change
ENST00000425815.6:c.1191del	ENSP00000394410.2:p.Thr399ArgfsTer?
ENST00000430374.6:c.1191del	ENSP00000405077.2:p.Thr399ArgfsTer?
ENST00000444508.6:c.1191del	ENSP00000398969.2:p.Thr399ArgfsTer?
ENST00000697898.1:n.1552del
ENST00000697899.1:c.957del	ENSP00000513470.1:p.Thr321ArgfsTer?
ENST00000697900.1:n.1467del
ENST00000697901.1:c.*49del	ENSP00000513471.1:n.*49del
ENST00000697902.1:n.1423del
ENST00000697903.1:c.1191del	ENSP00000513472.1:p.Thr399ArgfsTer?
ENST00000697904.1:c.1191del	ENSP00000513473.1:p.Thr399ArgfsTer?
ENST00000697905.1:c.1191del	ENSP00000513474.1:p.Thr399ArgfsTer?
ENST00000697906.1:c.957del	ENSP00000513475.1:p.Thr321ArgfsTer?
ENST00000697907.1:c.*49del	ENSP00000513476.1:n.*49del
ENST00000697908.1:n.988del
ENST00000357276.9:c.1191del MANE Select	ENSP00000349823.4:p.Thr399ArgfsTer?
ENST00000357276.8:c.1191del	ENSP00000349823.4:p.Thr399ArgfsTer?
ENST00000358207.9:c.1191del	ENSP00000350940.5:p.Thr399ArgfsTer?
ENST00000392128.6:c.783del	ENSP00000375974.2:p.Thr263ArgfsTer?
ENST00000412913.1:c.351del	ENSP00000390248.1:p.Thr119ArgfsTer?
ENST00000427645.5:c.837del	ENSP00000392997.1:p.Thr281ArgfsTer?
ENST00000479008.1:n.435del
NM_001127207.1:c.1191del	NP_001120679.1:p.Thr399ArgfsTer?
NM_014140.3:c.1191del , LRG_108t1:c.1191del	NP_054859.2:p.Thr399ArgfsTer?
XM_005246631.2:c.1191del	XP_005246688.1:p.Thr399ArgfsTer?
XM_005246632.1:c.1191del	XP_005246689.1:p.Thr399ArgfsTer?
XM_006712557.1:c.1191del	XP_006712620.1:p.Thr399ArgfsTer?
XM_005246632.2:c.1191del	XP_005246689.1:p.Thr399ArgfsTer?
XM_017004228.2:c.279del	XP_016859717.1:p.Thr95ArgfsTer?
NM_001127207.2:c.1191del	NP_001120679.1:p.Thr399ArgfsTer?
NM_014140.4:c.1191del MANE Select	NP_054859.2:p.Thr399ArgfsTer?