Canonical Allele Identifier: CA1139657687

Gene: SMARCAL1

Linked Data

• ClinVar Variation Id: 941165
• ClinVar RCV Id: RCV001210892
• dbSNP Id: rs1693556617
• gnomAD v4: 2-216415033-G-GCCACAGT

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.216415038_216415044dup , CM000664.2:g.216415038_216415044dup	GRCh38
NC_000002.11:g.217279761_217279767dup , CM000664.1:g.217279761_217279767dup	GRCh37
NC_000002.10:g.216988006_216988012dup	NCBI36
NG_009771.1:g.7625_7631dup , LRG_108:g.7625_7631dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000425815.6:c.334_340dup	ENSP00000394410.2:p.Arg114GlnfsTer4
ENST00000430374.6:c.334_340dup	ENSP00000405077.2:p.Arg114GlnfsTer4
ENST00000444508.6:c.334_340dup	ENSP00000398969.2:p.Arg114GlnfsTer4
ENST00000697898.1:n.695_701dup
ENST00000697899.1:c.334_340dup	ENSP00000513470.1:p.Arg114GlnfsTer4
ENST00000697900.1:n.610_616dup
ENST00000697901.1:c.334_340dup	ENSP00000513471.1:p.Arg114GlnfsTer4
ENST00000697902.1:n.566_572dup
ENST00000697903.1:c.334_340dup	ENSP00000513472.1:p.Arg114GlnfsTer4
ENST00000697904.1:c.334_340dup	ENSP00000513473.1:p.Arg114GlnfsTer4
ENST00000697905.1:c.334_340dup	ENSP00000513474.1:p.Arg114GlnfsTer4
ENST00000697906.1:c.334_340dup	ENSP00000513475.1:p.Arg114GlnfsTer4
ENST00000697907.1:c.334_340dup	ENSP00000513476.1:p.Arg114GlnfsTer4
ENST00000357276.9:c.334_340dup MANE Select	ENSP00000349823.4:p.Arg114GlnfsTer4
ENST00000357276.8:c.334_340dup	ENSP00000349823.4:p.Arg114GlnfsTer4
ENST00000358207.9:c.334_340dup	ENSP00000350940.5:p.Arg114GlnfsTer4
ENST00000427645.5:c.31_37dup	ENSP00000392997.1:p.Arg13GlnfsTer4
ENST00000430374.5:c.334_340dup	ENSP00000405077.1:p.Arg114GlnfsTer4
ENST00000444508.5:c.334_340dup	ENSP00000398969.1:p.Arg114GlnfsTer4
NM_001127207.1:c.334_340dup	NP_001120679.1:p.Arg114GlnfsTer4
NM_014140.3:c.334_340dup , LRG_108t1:c.334_340dup	NP_054859.2:p.Arg114GlnfsTer4
XM_005246631.2:c.334_340dup	XP_005246688.1:p.Arg114GlnfsTer4
XM_005246632.1:c.334_340dup	XP_005246689.1:p.Arg114GlnfsTer4
XM_006712557.1:c.334_340dup	XP_006712620.1:p.Arg114GlnfsTer4
XM_005246632.2:c.334_340dup	XP_005246689.1:p.Arg114GlnfsTer4
XM_017004228.2:c.-583_-577dup	XP_016859717.1:n.-583_-577dup
NM_001127207.2:c.334_340dup	NP_001120679.1:p.Arg114GlnfsTer4
NM_014140.4:c.334_340dup MANE Select	NP_054859.2:p.Arg114GlnfsTer4