Canonical Allele Identifier: CA2663034458

Gene: SMARCAL1

Linked Data

• gnomAD v4: 2-216475263-C-CTGCAGCACG

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.216475272_216475280dup , CM000664.2:g.216475272_216475280dup	GRCh38
NC_000002.11:g.217339995_217340003dup , CM000664.1:g.217339995_217340003dup	GRCh37
NC_000002.10:g.217048240_217048248dup	NCBI36
NG_009771.1:g.67859_67867dup , LRG_108:g.67859_67867dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000425815.6:c.2248_2256dup
ENST00000430374.6:c.2248_2256dup
ENST00000444508.6:c.2248_2256dup
ENST00000697899.1:c.2014_2022dup
ENST00000697901.1:c.*1003_*1011dup
ENST00000697903.1:c.*735_*743dup
ENST00000697904.1:c.*735_*743dup
ENST00000697905.1:c.*735_*743dup
ENST00000697906.1:c.2014_2022dup
ENST00000697907.1:c.*1106_*1114dup
ENST00000697908.1:n.1942_1950dup
ENST00000697909.1:n.1140_1148dup
ENST00000697910.1:n.645_653dup
ENST00000697911.1:n.554_562dup
ENST00000357276.9:c.2248_2256dup
ENST00000357276.8:c.2248_2256dup
ENST00000358207.9:c.2248_2256dup
ENST00000392128.6:c.1774_1782dup
NM_001127207.1:c.2248_2256dup
NM_014140.3:c.2248_2256dup , LRG_108t1:c.2248_2256dup
XM_005246631.2:c.2248_2256dup
XM_005246632.1:c.2248_2256dup
XM_006712557.1:c.2182_2190dup
XM_005246632.2:c.2248_2256dup
XM_017004228.2:c.1336_1344dup
NM_001127207.2:c.2248_2256dup
NM_014140.4:c.2248_2256dup