Canonical Allele Identifier: CA2580065734

Gene: SMARCAL1

Linked Data

• ClinVar Variation Id: 2124343
• ClinVar RCV Id: RCV003057113

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.216415133_216415134insTGATTTA , CM000664.2:g.216415133_216415134insTGATTTA	GRCh38
NC_000002.11:g.217279856_217279857insTGATTTA , CM000664.1:g.217279856_217279857insTGATTTA	GRCh37
NC_000002.10:g.216988101_216988102insTGATTTA	NCBI36
NG_009771.1:g.7720_7721insTGATTTA , LRG_108:g.7720_7721insTGATTTA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000425815.6:c.429_430insTGATTTA	ENSP00000394410.2:p.Gly144Ter
ENST00000430374.6:c.429_430insTGATTTA	ENSP00000405077.2:p.Gly144Ter
ENST00000444508.6:c.429_430insTGATTTA	ENSP00000398969.2:p.Gly144Ter
ENST00000697898.1:n.790_791insTGATTTA
ENST00000697899.1:c.429_430insTGATTTA	ENSP00000513470.1:p.Gly144Ter
ENST00000697900.1:n.705_706insTGATTTA
ENST00000697901.1:c.429_430insTGATTTA	ENSP00000513471.1:p.Gly144Ter
ENST00000697902.1:n.661_662insTGATTTA
ENST00000697903.1:c.429_430insTGATTTA	ENSP00000513472.1:p.Gly144Ter
ENST00000697904.1:c.429_430insTGATTTA	ENSP00000513473.1:p.Gly144Ter
ENST00000697905.1:c.429_430insTGATTTA	ENSP00000513474.1:p.Gly144Ter
ENST00000697906.1:c.429_430insTGATTTA	ENSP00000513475.1:p.Gly144Ter
ENST00000697907.1:c.429_430insTGATTTA	ENSP00000513476.1:p.Gly144Ter
ENST00000357276.9:c.429_430insTGATTTA MANE Select	ENSP00000349823.4:p.Gly144Ter
ENST00000357276.8:c.429_430insTGATTTA	ENSP00000349823.4:p.Gly144Ter
ENST00000358207.9:c.429_430insTGATTTA	ENSP00000350940.5:p.Gly144Ter
ENST00000392128.6:c.21_22insTGATTTA	ENSP00000375974.2:p.Gly8Ter
ENST00000427645.5:c.126_127insTGATTTA	ENSP00000392997.1:p.Gly43Ter
ENST00000430374.5:c.429_430insTGATTTA	ENSP00000405077.1:p.Gly144Ter
NM_001127207.1:c.429_430insTGATTTA	NP_001120679.1:p.Gly144Ter
NM_014140.3:c.429_430insTGATTTA , LRG_108t1:c.429_430insTGATTTA	NP_054859.2:p.Gly144Ter
XM_005246631.2:c.429_430insTGATTTA	XP_005246688.1:p.Gly144Ter
XM_005246632.1:c.429_430insTGATTTA	XP_005246689.1:p.Gly144Ter
XM_006712557.1:c.429_430insTGATTTA	XP_006712620.1:p.Gly144Ter
XM_005246632.2:c.429_430insTGATTTA	XP_005246689.1:p.Gly144Ter
XM_017004228.2:c.-488_-487insTGATTTA	XP_016859717.1:n.-488_-487insTGATTTA
NM_001127207.2:c.429_430insTGATTTA	NP_001120679.1:p.Gly144Ter
NM_014140.4:c.429_430insTGATTTA MANE Select	NP_054859.2:p.Gly144Ter