Canonical Allele Identifier: CA2739279535

Gene: SMARCAL1

Linked Data

• ClinVar Variation Id: 2810925
• ClinVar RCV Id: RCV003612650

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.216428637_216428638dup , CM000664.2:g.216428637_216428638dup	GRCh38
NC_000002.11:g.217293360_217293361dup , CM000664.1:g.217293360_217293361dup	GRCh37
NC_000002.10:g.217001605_217001606dup	NCBI36
NG_009771.1:g.21224_21225dup , LRG_108:g.21224_21225dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000425815.6:c.1189_1190dup	ENSP00000394410.2:p.Pro398CysfsTer?
ENST00000430374.6:c.1189_1190dup	ENSP00000405077.2:p.Pro398CysfsTer?
ENST00000444508.6:c.1189_1190dup	ENSP00000398969.2:p.Pro398CysfsTer?
ENST00000697898.1:n.1550_1551dup
ENST00000697899.1:c.955_956dup	ENSP00000513470.1:p.Pro320CysfsTer?
ENST00000697900.1:n.1465_1466dup
ENST00000697901.1:c.*47_*48dup	ENSP00000513471.1:n.*47_*48dup
ENST00000697902.1:n.1421_1422dup
ENST00000697903.1:c.1189_1190dup	ENSP00000513472.1:p.Pro398CysfsTer?
ENST00000697904.1:c.1189_1190dup	ENSP00000513473.1:p.Pro398CysfsTer?
ENST00000697905.1:c.1189_1190dup	ENSP00000513474.1:p.Pro398CysfsTer?
ENST00000697906.1:c.955_956dup	ENSP00000513475.1:p.Pro320CysfsTer?
ENST00000697907.1:c.*47_*48dup	ENSP00000513476.1:n.*47_*48dup
ENST00000697908.1:n.986_987dup
ENST00000357276.9:c.1189_1190dup MANE Select	ENSP00000349823.4:p.Pro398CysfsTer?
ENST00000357276.8:c.1189_1190dup	ENSP00000349823.4:p.Pro398CysfsTer?
ENST00000358207.9:c.1189_1190dup	ENSP00000350940.5:p.Pro398CysfsTer?
ENST00000392128.6:c.781_782dup	ENSP00000375974.2:p.Pro262CysfsTer?
ENST00000412913.1:c.349_350dup	ENSP00000390248.1:p.Pro118CysfsTer?
ENST00000427645.5:c.835_836dup	ENSP00000392997.1:p.Pro280CysfsTer?
ENST00000479008.1:n.433_434dup
NM_001127207.1:c.1189_1190dup	NP_001120679.1:p.Pro398CysfsTer?
NM_014140.3:c.1189_1190dup , LRG_108t1:c.1189_1190dup	NP_054859.2:p.Pro398CysfsTer?
XM_005246631.2:c.1189_1190dup	XP_005246688.1:p.Pro398CysfsTer?
XM_005246632.1:c.1189_1190dup	XP_005246689.1:p.Pro398CysfsTer?
XM_006712557.1:c.1189_1190dup	XP_006712620.1:p.Pro398CysfsTer?
XM_005246632.2:c.1189_1190dup	XP_005246689.1:p.Pro398CysfsTer?
XM_017004228.2:c.277_278dup	XP_016859717.1:p.Pro94CysfsTer?
NM_001127207.2:c.1189_1190dup	NP_001120679.1:p.Pro398CysfsTer?
NM_014140.4:c.1189_1190dup MANE Select	NP_054859.2:p.Pro398CysfsTer?