Canonical Allele Identifier: CA2580065740

Gene: SMARCAL1

Linked Data

• ClinVar Variation Id: 2002618
• ClinVar RCV Id: RCV002820547

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.216415292dup , CM000664.2:g.216415292dup	GRCh38
NC_000002.11:g.217280015dup , CM000664.1:g.217280015dup	GRCh37
NC_000002.10:g.216988260dup	NCBI36
NG_009771.1:g.7879dup , LRG_108:g.7879dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000425815.6:c.588dup	ENSP00000394410.2:p.Ala197SerfsTer14
ENST00000430374.6:c.588dup	ENSP00000405077.2:p.Ala197SerfsTer14
ENST00000444508.6:c.588dup	ENSP00000398969.2:p.Ala197SerfsTer14
ENST00000697898.1:n.949dup
ENST00000697899.1:c.588dup	ENSP00000513470.1:p.Ala197SerfsTer14
ENST00000697900.1:n.864dup
ENST00000697901.1:c.588dup	ENSP00000513471.1:p.Ala197SerfsTer14
ENST00000697902.1:n.820dup
ENST00000697903.1:c.588dup	ENSP00000513472.1:p.Ala197SerfsTer14
ENST00000697904.1:c.588dup	ENSP00000513473.1:p.Ala197SerfsTer14
ENST00000697905.1:c.588dup	ENSP00000513474.1:p.Ala197SerfsTer14
ENST00000697906.1:c.588dup	ENSP00000513475.1:p.Ala197SerfsTer14
ENST00000697907.1:c.588dup	ENSP00000513476.1:p.Ala197SerfsTer14
ENST00000357276.9:c.588dup MANE Select	ENSP00000349823.4:p.Ala197SerfsTer14
ENST00000357276.8:c.588dup	ENSP00000349823.4:p.Ala197SerfsTer14
ENST00000358207.9:c.588dup	ENSP00000350940.5:p.Ala197SerfsTer14
ENST00000392128.6:c.180dup	ENSP00000375974.2:p.Ala61SerfsTer14
ENST00000427645.5:c.285dup	ENSP00000392997.1:p.Ala96SerfsTer14
NM_001127207.1:c.588dup	NP_001120679.1:p.Ala197SerfsTer14
NM_014140.3:c.588dup , LRG_108t1:c.588dup	NP_054859.2:p.Ala197SerfsTer14
XM_005246631.2:c.588dup	XP_005246688.1:p.Ala197SerfsTer14
XM_005246632.1:c.588dup	XP_005246689.1:p.Ala197SerfsTer14
XM_006712557.1:c.588dup	XP_006712620.1:p.Ala197SerfsTer14
XM_005246632.2:c.588dup	XP_005246689.1:p.Ala197SerfsTer14
XM_017004228.2:c.-329dup	XP_016859717.1:n.-329dup
NM_001127207.2:c.588dup	NP_001120679.1:p.Ala197SerfsTer14
NM_014140.4:c.588dup MANE Select	NP_054859.2:p.Ala197SerfsTer14