Canonical Allele Identifier: CA2097810

Gene: SMARCAL1

Linked Data

• ClinVar Variation Id: 577921
• ClinVar RCV Id: RCV000700786
• dbSNP Id: rs766291662
• ExAC: 2:217293360 CT / C
• gnomAD v2: 2-217293360-CT-C
• gnomAD v3: 2-216428637-CT-C
• gnomAD v4: 2-216428637-CT-C
• MyVariant Identifiers: chr2:g.217293361del (hg19) ; chr2:g.216428638del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.216428638del , CM000664.2:g.216428638del	GRCh38
NC_000002.11:g.217293361del , CM000664.1:g.217293361del	GRCh37
NC_000002.10:g.217001606del	NCBI36
NG_009771.1:g.21225del , LRG_108:g.21225del

Transcript Alleles

HGVS	Amino-acid change
ENST00000425815.6:c.1190del	ENSP00000394410.2:p.Leu397ArgfsTer?
ENST00000430374.6:c.1190del	ENSP00000405077.2:p.Leu397ArgfsTer?
ENST00000444508.6:c.1190del	ENSP00000398969.2:p.Leu397ArgfsTer?
ENST00000697898.1:n.1551del
ENST00000697899.1:c.956del	ENSP00000513470.1:p.Leu319ArgfsTer?
ENST00000697900.1:n.1466del
ENST00000697901.1:c.*48del	ENSP00000513471.1:n.*48del
ENST00000697902.1:n.1422del
ENST00000697903.1:c.1190del	ENSP00000513472.1:p.Leu397ArgfsTer?
ENST00000697904.1:c.1190del	ENSP00000513473.1:p.Leu397ArgfsTer?
ENST00000697905.1:c.1190del	ENSP00000513474.1:p.Leu397ArgfsTer?
ENST00000697906.1:c.956del	ENSP00000513475.1:p.Leu319ArgfsTer?
ENST00000697907.1:c.*48del	ENSP00000513476.1:n.*48del
ENST00000697908.1:n.987del
ENST00000357276.9:c.1190del MANE Select	ENSP00000349823.4:p.Leu397ArgfsTer?
ENST00000357276.8:c.1190del	ENSP00000349823.4:p.Leu397ArgfsTer?
ENST00000358207.9:c.1190del	ENSP00000350940.5:p.Leu397ArgfsTer?
ENST00000392128.6:c.782del	ENSP00000375974.2:p.Leu261ArgfsTer?
ENST00000412913.1:c.350del	ENSP00000390248.1:p.Leu117ArgfsTer?
ENST00000427645.5:c.836del	ENSP00000392997.1:p.Leu279ArgfsTer?
ENST00000479008.1:n.434del
NM_001127207.1:c.1190del	NP_001120679.1:p.Leu397ArgfsTer?
NM_014140.3:c.1190del , LRG_108t1:c.1190del	NP_054859.2:p.Leu397ArgfsTer?
XM_005246631.2:c.1190del	XP_005246688.1:p.Leu397ArgfsTer?
XM_005246632.1:c.1190del	XP_005246689.1:p.Leu397ArgfsTer?
XM_006712557.1:c.1190del	XP_006712620.1:p.Leu397ArgfsTer?
XM_005246632.2:c.1190del	XP_005246689.1:p.Leu397ArgfsTer?
XM_017004228.2:c.278del	XP_016859717.1:p.Leu93ArgfsTer?
NM_001127207.2:c.1190del	NP_001120679.1:p.Leu397ArgfsTer?
NM_014140.4:c.1190del MANE Select	NP_054859.2:p.Leu397ArgfsTer?