Canonical Allele Identifier: CA2663035654

Gene: SMARCAL1

Linked Data

• gnomAD v4: 2-216482918-CAGA-C

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.216482923_216482925del , CM000664.2:g.216482923_216482925del	GRCh38
NC_000002.11:g.217347646_217347648del , CM000664.1:g.217347646_217347648del	GRCh37
NC_000002.10:g.217055891_217055893del	NCBI36
NG_009771.1:g.75510_75512del , LRG_108:g.75510_75512del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000425815.6:c.2811_2813del	ENSP00000394410.2:p.Lys938del
ENST00000430374.6:c.2811_2813del	ENSP00000405077.2:p.Lys938del
ENST00000444508.6:c.2811_2813del	ENSP00000398969.2:p.Lys938del
ENST00000697899.1:c.2577_2579del	ENSP00000513470.1:p.Lys860del
ENST00000697901.1:c.*1566_*1568del	ENSP00000513471.1:n.*1566_*1568del
ENST00000697903.1:c.*1298_*1300del	ENSP00000513472.1:n.*1298_*1300del
ENST00000697904.1:c.*1298_*1300del	ENSP00000513473.1:n.*1298_*1300del
ENST00000697905.1:c.*1298_*1300del	ENSP00000513474.1:n.*1298_*1300del
ENST00000697906.1:c.2577_2579del	ENSP00000513475.1:p.Lys860del
ENST00000697907.1:c.*1669_*1671del	ENSP00000513476.1:n.*1669_*1671del
ENST00000697909.1:n.1703_1705del
ENST00000697910.1:n.1208_1210del
ENST00000357276.9:c.2811_2813del MANE Select	ENSP00000349823.4:p.Lys938del
ENST00000357276.8:c.2811_2813del	ENSP00000349823.4:p.Lys938del
ENST00000358207.9:c.2811_2813del	ENSP00000350940.5:p.Lys938del
ENST00000392128.6:c.2337_2339del	ENSP00000375974.2:p.Lys780del
NM_001127207.1:c.2811_2813del	NP_001120679.1:p.Lys938del
NM_014140.3:c.2811_2813del , LRG_108t1:c.2811_2813del	NP_054859.2:p.Lys938del
XM_005246631.2:c.2811_2813del	XP_005246688.1:p.Lys938del
XM_005246632.1:c.2811_2813del	XP_005246689.1:p.Lys938del
XM_006712557.1:c.2745_2747del	XP_006712620.1:p.Lys916del
XM_005246632.2:c.2811_2813del	XP_005246689.1:p.Lys938del
XM_017004228.2:c.1899_1901del	XP_016859717.1:p.Lys634del
NM_001127207.2:c.2811_2813del	NP_001120679.1:p.Lys938del
NM_014140.4:c.2811_2813del MANE Select	NP_054859.2:p.Lys938del