Canonical Allele Identifier: CA65577741

Gene: SMARCAL1

Linked Data

• ClinVar Variation Id: 2876809
• ClinVar RCV Id: RCV003611232
• dbSNP Id: rs962523270
• MyVariant Identifiers: chr2:g.217279551_217279552insT (hg19) ; chr2:g.216414828_216414829insT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.216414830dup , CM000664.2:g.216414830dup	GRCh38
NC_000002.11:g.217279553dup , CM000664.1:g.217279553dup	GRCh37
NC_000002.10:g.216987798dup	NCBI36
NG_009771.1:g.7417dup , LRG_108:g.7417dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000425815.6:c.126dup	ENSP00000394410.2:p.Ala43CysfsTer21
ENST00000430374.6:c.126dup	ENSP00000405077.2:p.Ala43CysfsTer21
ENST00000444508.6:c.126dup	ENSP00000398969.2:p.Ala43CysfsTer21
ENST00000697898.1:n.487dup
ENST00000697899.1:c.126dup	ENSP00000513470.1:p.Ala43CysfsTer21
ENST00000697900.1:n.402dup
ENST00000697901.1:c.126dup	ENSP00000513471.1:p.Ala43CysfsTer21
ENST00000697902.1:n.358dup
ENST00000697903.1:c.126dup	ENSP00000513472.1:p.Ala43CysfsTer21
ENST00000697904.1:c.126dup	ENSP00000513473.1:p.Ala43CysfsTer21
ENST00000697905.1:c.126dup	ENSP00000513474.1:p.Ala43CysfsTer21
ENST00000697906.1:c.126dup	ENSP00000513475.1:p.Ala43CysfsTer21
ENST00000697907.1:c.126dup	ENSP00000513476.1:p.Ala43CysfsTer21
ENST00000357276.9:c.126dup MANE Select	ENSP00000349823.4:p.Ala43CysfsTer21
ENST00000357276.8:c.126dup	ENSP00000349823.4:p.Ala43CysfsTer21
ENST00000358207.9:c.126dup	ENSP00000350940.5:p.Ala43CysfsTer21
ENST00000430374.5:c.126dup	ENSP00000405077.1:p.Ala43CysfsTer21
ENST00000434435.1:c.126dup	ENSP00000402967.1:p.Ala43CysfsTer21
ENST00000444508.5:c.126dup	ENSP00000398969.1:p.Ala43CysfsTer21
NM_001127207.1:c.126dup	NP_001120679.1:p.Ala43CysfsTer21
NM_014140.3:c.126dup , LRG_108t1:c.126dup	NP_054859.2:p.Ala43CysfsTer21
XM_005246631.2:c.126dup	XP_005246688.1:p.Ala43CysfsTer21
XM_005246632.1:c.126dup	XP_005246689.1:p.Ala43CysfsTer21
XM_006712557.1:c.126dup	XP_006712620.1:p.Ala43CysfsTer21
XM_005246632.2:c.126dup	XP_005246689.1:p.Ala43CysfsTer21
XM_017004228.2:c.-791dup	XP_016859717.1:n.-791dup
NM_001127207.2:c.126dup	NP_001120679.1:p.Ala43CysfsTer21
NM_014140.4:c.126dup MANE Select	NP_054859.2:p.Ala43CysfsTer21