Canonical Allele Identifier: CA1042325173

Gene: SMARCAL1

Linked Data

• dbSNP Id: rs1695129626
• gnomAD v3: 2-216478216-GAGA-G
• gnomAD v4: 2-216478216-GAGA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.216478220_216478222del , CM000664.2:g.216478220_216478222del	GRCh38
NC_000002.11:g.217342943_217342945del , CM000664.1:g.217342943_217342945del	GRCh37
NC_000002.10:g.217051188_217051190del	NCBI36
NG_009771.1:g.70807_70809del , LRG_108:g.70807_70809del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000425815.6:c.2546_2548del	ENSP00000394410.2:p.Lys849del
ENST00000430374.6:c.2546_2548del	ENSP00000405077.2:p.Lys849del
ENST00000444508.6:c.2546_2548del	ENSP00000398969.2:p.Lys849del
ENST00000697899.1:c.2312_2314del	ENSP00000513470.1:p.Lys771del
ENST00000697901.1:c.*1301_*1303del	ENSP00000513471.1:n.*1301_*1303del
ENST00000697903.1:c.*1033_*1035del	ENSP00000513472.1:n.*1033_*1035del
ENST00000697904.1:c.*1033_*1035del	ENSP00000513473.1:n.*1033_*1035del
ENST00000697905.1:c.*1033_*1035del	ENSP00000513474.1:n.*1033_*1035del
ENST00000697906.1:c.2312_2314del	ENSP00000513475.1:p.Lys771del
ENST00000697907.1:c.*1404_*1406del	ENSP00000513476.1:n.*1404_*1406del
ENST00000697908.1:n.2240_2242del
ENST00000697909.1:n.1438_1440del
ENST00000697910.1:n.943_945del
ENST00000697911.1:n.852_854del
ENST00000357276.9:c.2546_2548del MANE Select	ENSP00000349823.4:p.Lys849del
ENST00000357276.8:c.2546_2548del	ENSP00000349823.4:p.Lys849del
ENST00000358207.9:c.2546_2548del	ENSP00000350940.5:p.Lys849del
ENST00000392128.6:c.2072_2074del	ENSP00000375974.2:p.Lys691del
NM_001127207.1:c.2546_2548del	NP_001120679.1:p.Lys849del
NM_014140.3:c.2546_2548del , LRG_108t1:c.2546_2548del	NP_054859.2:p.Lys849del
XM_005246631.2:c.2546_2548del	XP_005246688.1:p.Lys849del
XM_005246632.1:c.2546_2548del	XP_005246689.1:p.Lys849del
XM_006712557.1:c.2480_2482del	XP_006712620.1:p.Lys827del
XM_005246632.2:c.2546_2548del	XP_005246689.1:p.Lys849del
XM_017004228.2:c.1634_1636del	XP_016859717.1:p.Lys545del
NM_001127207.2:c.2546_2548del	NP_001120679.1:p.Lys849del
NM_014140.4:c.2546_2548del MANE Select	NP_054859.2:p.Lys849del