Canonical Allele Identifier: CA2663035687

Gene: SMARCAL1

Linked Data

• gnomAD v4: 2-216483034-T-TA

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.216483036dup , CM000664.2:g.216483036dup	GRCh38
NC_000002.11:g.217347759dup , CM000664.1:g.217347759dup	GRCh37
NC_000002.10:g.217056004dup	NCBI36
NG_009771.1:g.75623dup , LRG_108:g.75623dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000430374.6:c.*59dup	ENSP00000405077.2:n.*59dup
ENST00000697899.1:c.*59dup	ENSP00000513470.1:n.*59dup
ENST00000357276.9:c.*59dup MANE Select	ENSP00000349823.4:n.*59dup
ENST00000357276.8:c.*59dup	ENSP00000349823.4:n.*59dup
NM_001127207.1:c.*59dup	NP_001120679.1:n.*59dup
NM_014140.3:c.*59dup , LRG_108t1:c.*59dup	NP_054859.2:n.*59dup
XM_005246631.2:c.*59dup	XP_005246688.1:n.*59dup
XM_005246632.1:c.*59dup	XP_005246689.1:n.*59dup
XM_006712557.1:c.*59dup	XP_006712620.1:n.*59dup
XM_005246632.2:c.*59dup	XP_005246689.1:n.*59dup
XM_017004228.2:c.*59dup	XP_016859717.1:n.*59dup
NM_001127207.2:c.*59dup	NP_001120679.1:n.*59dup
NM_014140.4:c.*59dup MANE Select	NP_054859.2:n.*59dup