Canonical Allele Identifier: CA1042320689

Gene: SMARCAL1

Linked Data

• dbSNP Id: rs1693892855
• gnomAD v3: 2-216428631-GACCCTCTGCCC-G
• gnomAD v4: 2-216428631-GACCCTCTGCCC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.216428634_216428644del , CM000664.2:g.216428634_216428644del	GRCh38
NC_000002.11:g.217293357_217293367del , CM000664.1:g.217293357_217293367del	GRCh37
NC_000002.10:g.217001602_217001612del	NCBI36
NG_009771.1:g.21221_21231del , LRG_108:g.21221_21231del

Transcript Alleles

HGVS	Amino-acid change
ENST00000425815.6:c.1186_1196del	ENSP00000394410.2:p.Pro396AspfsTer28
ENST00000430374.6:c.1186_1196del	ENSP00000405077.2:p.Pro396AspfsTer28
ENST00000444508.6:c.1186_1196del	ENSP00000398969.2:p.Pro396AspfsTer28
ENST00000697898.1:n.1547_1557del
ENST00000697899.1:c.952_962del	ENSP00000513470.1:p.Pro318AspfsTer28
ENST00000697900.1:n.1462_1472del
ENST00000697901.1:c.*44_*54del	ENSP00000513471.1:n.*44_*54del
ENST00000697902.1:n.1418_1428del
ENST00000697903.1:c.1186_1196del	ENSP00000513472.1:p.Pro396AspfsTer28
ENST00000697904.1:c.1186_1196del	ENSP00000513473.1:p.Pro396AspfsTer28
ENST00000697905.1:c.1186_1196del	ENSP00000513474.1:p.Pro396AspfsTer28
ENST00000697906.1:c.952_962del	ENSP00000513475.1:p.Pro318AspfsTer28
ENST00000697907.1:c.*44_*54del	ENSP00000513476.1:n.*44_*54del
ENST00000697908.1:n.983_993del
ENST00000357276.9:c.1186_1196del MANE Select	ENSP00000349823.4:p.Pro396AspfsTer28
ENST00000357276.8:c.1186_1196del	ENSP00000349823.4:p.Pro396AspfsTer28
ENST00000358207.9:c.1186_1196del	ENSP00000350940.5:p.Pro396AspfsTer28
ENST00000392128.6:c.778_788del	ENSP00000375974.2:p.Pro260AspfsTer28
ENST00000412913.1:c.346_356del	ENSP00000390248.1:p.Pro116AspfsTer?
ENST00000427645.5:c.832_842del	ENSP00000392997.1:p.Pro278AspfsTer28
ENST00000479008.1:n.430_440del
NM_001127207.1:c.1186_1196del	NP_001120679.1:p.Pro396AspfsTer28
NM_014140.3:c.1186_1196del , LRG_108t1:c.1186_1196del	NP_054859.2:p.Pro396AspfsTer28
XM_005246631.2:c.1186_1196del	XP_005246688.1:p.Pro396AspfsTer28
XM_005246632.1:c.1186_1196del	XP_005246689.1:p.Pro396AspfsTer28
XM_006712557.1:c.1186_1196del	XP_006712620.1:p.Pro396AspfsTer28
XM_005246632.2:c.1186_1196del	XP_005246689.1:p.Pro396AspfsTer28
XM_017004228.2:c.274_284del	XP_016859717.1:p.Pro92AspfsTer28
NM_001127207.2:c.1186_1196del	NP_001120679.1:p.Pro396AspfsTer28
NM_014140.4:c.1186_1196del MANE Select	NP_054859.2:p.Pro396AspfsTer28