Canonical Allele Identifier: CA2663034451

Gene: SMARCAL1

Linked Data

• gnomAD v4: 2-216475232-CTG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.216475234_216475235del , CM000664.2:g.216475234_216475235del	GRCh38
NC_000002.11:g.217339957_217339958del , CM000664.1:g.217339957_217339958del	GRCh37
NC_000002.10:g.217048202_217048203del	NCBI36
NG_009771.1:g.67821_67822del , LRG_108:g.67821_67822del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000425815.6:c.2245-35_2245-34del	ENSP00000394410.2:n.2245-35_2245-34del
ENST00000430374.6:c.2245-35_2245-34del	ENSP00000405077.2:n.2245-35_2245-34del
ENST00000444508.6:c.2245-35_2245-34del	ENSP00000398969.2:n.2245-35_2245-34del
ENST00000697899.1:c.2011-35_2011-34del	ENSP00000513470.1:n.2011-35_2011-34del
ENST00000697901.1:c.*1000-35_*1000-34del	ENSP00000513471.1:n.*1000-35_*1000-34del
ENST00000697903.1:c.*732-35_*732-34del	ENSP00000513472.1:n.*732-35_*732-34del
ENST00000697904.1:c.*732-35_*732-34del	ENSP00000513473.1:n.*732-35_*732-34del
ENST00000697905.1:c.*732-35_*732-34del	ENSP00000513474.1:n.*732-35_*732-34del
ENST00000697906.1:c.2011-35_2011-34del	ENSP00000513475.1:n.2011-35_2011-34del
ENST00000697907.1:c.*1103-35_*1103-34del	ENSP00000513476.1:n.*1103-35_*1103-34del
ENST00000697908.1:n.1939-35_1939-34del
ENST00000697909.1:n.1137-35_1137-34del
ENST00000697910.1:n.607_608del
ENST00000697911.1:n.516_517del
ENST00000357276.9:c.2245-35_2245-34del MANE Select	ENSP00000349823.4:n.2245-35_2245-34del
ENST00000357276.8:c.2245-35_2245-34del	ENSP00000349823.4:n.2245-35_2245-34del
ENST00000358207.9:c.2245-35_2245-34del	ENSP00000350940.5:n.2245-35_2245-34del
ENST00000392128.6:c.1771-35_1771-34del	ENSP00000375974.2:n.1771-35_1771-34del
NM_001127207.1:c.2245-35_2245-34del	NP_001120679.1:n.2245-35_2245-34del
NM_014140.3:c.2245-35_2245-34del , LRG_108t1:c.2245-35_2245-34del	NP_054859.2:n.2245-35_2245-34del
XM_005246631.2:c.2245-35_2245-34del	XP_005246688.1:n.2245-35_2245-34del
XM_005246632.1:c.2245-35_2245-34del	XP_005246689.1:n.2245-35_2245-34del
XM_006712557.1:c.2179-35_2179-34del	XP_006712620.1:n.2179-35_2179-34del
XM_005246632.2:c.2245-35_2245-34del	XP_005246689.1:n.2245-35_2245-34del
XM_017004228.2:c.1333-35_1333-34del	XP_016859717.1:n.1333-35_1333-34del
NM_001127207.2:c.2245-35_2245-34del	NP_001120679.1:n.2245-35_2245-34del
NM_014140.4:c.2245-35_2245-34del MANE Select	NP_054859.2:n.2245-35_2245-34del