Canonical Allele Identifier: CA539838442

Gene: SMARCAL1

Linked Data

• dbSNP Id: rs1211494384
• gnomAD v2: 2-217280289-G-GTTTT
• gnomAD v3: 2-216415566-G-GTTTT
• gnomAD v4: 2-216415566-G-GTTTT
• MyVariant Identifiers: chr2:g.217280289_217280290insTTTT (hg19) ; chr2:g.216415566_216415567insTTTT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.216415567_216415568insTTTT , CM000664.2:g.216415567_216415568insTTTT	GRCh38
NC_000002.11:g.217280290_217280291insTTTT , CM000664.1:g.217280290_217280291insTTTT	GRCh37
NC_000002.10:g.216988535_216988536insTTTT	NCBI36
NG_009771.1:g.8154_8155insTTTT , LRG_108:g.8154_8155insTTTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000425815.6:c.811+52_811+53insTTTT	ENSP00000394410.2:n.811+52_811+53insTTTT
ENST00000430374.6:c.811+52_811+53insTTTT	ENSP00000405077.2:n.811+52_811+53insTTTT
ENST00000444508.6:c.811+52_811+53insTTTT	ENSP00000398969.2:n.811+52_811+53insTTTT
ENST00000697898.1:n.1172+52_1172+53insTTTT
ENST00000697899.1:c.811+52_811+53insTTTT	ENSP00000513470.1:n.811+52_811+53insTTTT
ENST00000697900.1:n.1087+52_1087+53insTTTT
ENST00000697901.1:c.811+52_811+53insTTTT	ENSP00000513471.1:n.811+52_811+53insTTTT
ENST00000697902.1:n.1043+52_1043+53insTTTT
ENST00000697903.1:c.811+52_811+53insTTTT	ENSP00000513472.1:n.811+52_811+53insTTTT
ENST00000697904.1:c.811+52_811+53insTTTT	ENSP00000513473.1:n.811+52_811+53insTTTT
ENST00000697905.1:c.811+52_811+53insTTTT	ENSP00000513474.1:n.811+52_811+53insTTTT
ENST00000697906.1:c.811+52_811+53insTTTT	ENSP00000513475.1:n.811+52_811+53insTTTT
ENST00000697907.1:c.811+52_811+53insTTTT	ENSP00000513476.1:n.811+52_811+53insTTTT
ENST00000357276.9:c.811+52_811+53insTTTT MANE Select	ENSP00000349823.4:n.811+52_811+53insTTTT
ENST00000357276.8:c.811+52_811+53insTTTT	ENSP00000349823.4:n.811+52_811+53insTTTT
ENST00000358207.9:c.811+52_811+53insTTTT	ENSP00000350940.5:n.811+52_811+53insTTTT
ENST00000392128.6:c.403+52_403+53insTTTT	ENSP00000375974.2:n.403+52_403+53insTTTT
ENST00000427645.5:c.508+52_508+53insTTTT	ENSP00000392997.1:n.508+52_508+53insTTTT
NM_001127207.1:c.811+52_811+53insTTTT	NP_001120679.1:n.811+52_811+53insTTTT
NM_014140.3:c.811+52_811+53insTTTT , LRG_108t1:c.811+52_811+53insTTTT	NP_054859.2:n.811+52_811+53insTTTT
XM_005246631.2:c.811+52_811+53insTTTT	XP_005246688.1:n.811+52_811+53insTTTT
XM_005246632.1:c.811+52_811+53insTTTT	XP_005246689.1:n.811+52_811+53insTTTT
XM_006712557.1:c.811+52_811+53insTTTT	XP_006712620.1:n.811+52_811+53insTTTT
XM_005246632.2:c.811+52_811+53insTTTT	XP_005246689.1:n.811+52_811+53insTTTT
XM_017004228.2:c.-106+52_-106+53insTTTT	XP_016859717.1:n.-106+52_-106+53insTTTT
NM_001127207.2:c.811+52_811+53insTTTT	NP_001120679.1:n.811+52_811+53insTTTT
NM_014140.4:c.811+52_811+53insTTTT MANE Select	NP_054859.2:n.811+52_811+53insTTTT