Canonical Allele Identifier: CA2663032365

Gene: SMARCAL1

Linked Data

• gnomAD v4: 2-216415268-TAA-T

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.216415269_216415270del , CM000664.2:g.216415269_216415270del	GRCh38
NC_000002.11:g.217279992_217279993del , CM000664.1:g.217279992_217279993del	GRCh37
NC_000002.10:g.216988237_216988238del	NCBI36
NG_009771.1:g.7856_7857del , LRG_108:g.7856_7857del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000425815.6:c.565_566del	ENSP00000394410.2:p.Lys189ValfsTer21
ENST00000430374.6:c.565_566del	ENSP00000405077.2:p.Lys189ValfsTer21
ENST00000444508.6:c.565_566del	ENSP00000398969.2:p.Lys189ValfsTer21
ENST00000697898.1:n.926_927del
ENST00000697899.1:c.565_566del	ENSP00000513470.1:p.Lys189ValfsTer21
ENST00000697900.1:n.841_842del
ENST00000697901.1:c.565_566del	ENSP00000513471.1:p.Lys189ValfsTer21
ENST00000697902.1:n.797_798del
ENST00000697903.1:c.565_566del	ENSP00000513472.1:p.Lys189ValfsTer21
ENST00000697904.1:c.565_566del	ENSP00000513473.1:p.Lys189ValfsTer21
ENST00000697905.1:c.565_566del	ENSP00000513474.1:p.Lys189ValfsTer21
ENST00000697906.1:c.565_566del	ENSP00000513475.1:p.Lys189ValfsTer21
ENST00000697907.1:c.565_566del	ENSP00000513476.1:p.Lys189ValfsTer21
ENST00000357276.9:c.565_566del MANE Select	ENSP00000349823.4:p.Lys189ValfsTer21
ENST00000357276.8:c.565_566del	ENSP00000349823.4:p.Lys189ValfsTer21
ENST00000358207.9:c.565_566del	ENSP00000350940.5:p.Lys189ValfsTer21
ENST00000392128.6:c.157_158del	ENSP00000375974.2:p.Lys53ValfsTer21
ENST00000427645.5:c.262_263del	ENSP00000392997.1:p.Lys88ValfsTer21
NM_001127207.1:c.565_566del	NP_001120679.1:p.Lys189ValfsTer21
NM_014140.3:c.565_566del , LRG_108t1:c.565_566del	NP_054859.2:p.Lys189ValfsTer21
XM_005246631.2:c.565_566del	XP_005246688.1:p.Lys189ValfsTer21
XM_005246632.1:c.565_566del	XP_005246689.1:p.Lys189ValfsTer21
XM_006712557.1:c.565_566del	XP_006712620.1:p.Lys189ValfsTer21
XM_005246632.2:c.565_566del	XP_005246689.1:p.Lys189ValfsTer21
XM_017004228.2:c.-352_-351del	XP_016859717.1:n.-352_-351del
NM_001127207.2:c.565_566del	NP_001120679.1:p.Lys189ValfsTer21
NM_014140.4:c.565_566del MANE Select	NP_054859.2:p.Lys189ValfsTer21