Canonical Allele Identifier: CA1327827164

Gene: SMARCAL1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.216428637_216428638delinsCT , CM000664.2:g.216428637_216428638delinsCT	GRCh38
NC_000002.11:g.217293360_217293361delinsCT , CM000664.1:g.217293360_217293361delinsCT	GRCh37
NC_000002.10:g.217001605_217001606delinsCT	NCBI36
NG_009771.1:g.21224_21225delinsCT , LRG_108:g.21224_21225delinsCT

Transcript Alleles

HGVS	Amino-acid change
ENST00000425815.6:c.1189_1190delinsCT	ENSP00000394410.2:p.Leu397=
ENST00000430374.6:c.1189_1190delinsCT	ENSP00000405077.2:p.Leu397=
ENST00000444508.6:c.1189_1190delinsCT	ENSP00000398969.2:p.Leu397=
ENST00000697898.1:n.1550_1551delinsCT
ENST00000697899.1:c.955_956delinsCT	ENSP00000513470.1:p.Leu319=
ENST00000697900.1:n.1465_1466delinsCT
ENST00000697901.1:c.*47_*48delinsCT	ENSP00000513471.1:n.*47_*48delinsCT
ENST00000697902.1:n.1421_1422delinsCT
ENST00000697903.1:c.1189_1190delinsCT	ENSP00000513472.1:p.Leu397=
ENST00000697904.1:c.1189_1190delinsCT	ENSP00000513473.1:p.Leu397=
ENST00000697905.1:c.1189_1190delinsCT	ENSP00000513474.1:p.Leu397=
ENST00000697906.1:c.955_956delinsCT	ENSP00000513475.1:p.Leu319=
ENST00000697907.1:c.*47_*48delinsCT	ENSP00000513476.1:n.*47_*48delinsCT
ENST00000697908.1:n.986_987delinsCT
ENST00000357276.9:c.1189_1190delinsCT MANE Select	ENSP00000349823.4:p.Leu397=
ENST00000357276.8:c.1189_1190delinsCT	ENSP00000349823.4:p.Leu397=
ENST00000358207.9:c.1189_1190delinsCT	ENSP00000350940.5:p.Leu397=
ENST00000392128.6:c.781_782delinsCT	ENSP00000375974.2:p.Leu261=
ENST00000412913.1:c.349_350delinsCT	ENSP00000390248.1:p.Leu117=
ENST00000427645.5:c.835_836delinsCT	ENSP00000392997.1:p.Leu279=
ENST00000479008.1:n.433_434delinsCT
NM_001127207.1:c.1189_1190delinsCT	NP_001120679.1:p.Leu397=
NM_014140.3:c.1189_1190delinsCT , LRG_108t1:c.1189_1190delinsCT	NP_054859.2:p.Leu397=
XM_005246631.2:c.1189_1190delinsCT	XP_005246688.1:p.Leu397=
XM_005246632.1:c.1189_1190delinsCT	XP_005246689.1:p.Leu397=
XM_006712557.1:c.1189_1190delinsCT	XP_006712620.1:p.Leu397=
XM_005246632.2:c.1189_1190delinsCT	XP_005246689.1:p.Leu397=
XM_017004228.2:c.277_278delinsCT	XP_016859717.1:p.Leu93=
NM_001127207.2:c.1189_1190delinsCT	NP_001120679.1:p.Leu397=
NM_014140.4:c.1189_1190delinsCT MANE Select	NP_054859.2:p.Leu397=