Canonical Allele Identifier: CA1042309134

Gene: SMARCAL1

Linked Data

• dbSNP Id: rs1694205184
• gnomAD v3: 2-216441905-T-TAA
• gnomAD v4: 2-216441905-T-TAA

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.216441905_216441906insAA , CM000664.2:g.216441905_216441906insAA	GRCh38
NC_000002.11:g.217306628_217306629insAA , CM000664.1:g.217306628_217306629insAA	GRCh37
NC_000002.10:g.217014873_217014874insAA	NCBI36
NG_009771.1:g.34492_34493insAA , LRG_108:g.34492_34493insAA

Transcript Alleles

HGVS	Amino-acid change
ENST00000425815.6:c.1710+3420_1710+3421insAA	ENSP00000394410.2:n.1710+3420_1710+3421in...
ENST00000430374.6:c.1710+3420_1710+3421insAA	ENSP00000405077.2:n.1710+3420_1710+3421in...
ENST00000444508.6:c.1710+3420_1710+3421insAA	ENSP00000398969.2:n.1710+3420_1710+3421in...
ENST00000697898.1:n.2071+3420_2071+3421insAA
ENST00000697899.1:c.1476+3420_1476+3421insAA	ENSP00000513470.1:n.1476+3420_1476+3421in...
ENST00000697901.1:c.*568+3420_*568+3421insAA	ENSP00000513471.1:n.*568+3420_*568+3421in...
ENST00000697902.1:n.1942+3420_1942+3421insAA
ENST00000697903.1:c.*197+3420_*197+3421insAA	ENSP00000513472.1:n.*197+3420_*197+3421in...
ENST00000697904.1:c.*197+3420_*197+3421insAA	ENSP00000513473.1:n.*197+3420_*197+3421in...
ENST00000697905.1:c.*197+3420_*197+3421insAA	ENSP00000513474.1:n.*197+3420_*197+3421in...
ENST00000697906.1:c.1476+3420_1476+3421insAA	ENSP00000513475.1:n.1476+3420_1476+3421in...
ENST00000697907.1:c.*568+3420_*568+3421insAA	ENSP00000513476.1:n.*568+3420_*568+3421in...
ENST00000697908.1:n.1507+3420_1507+3421insAA
ENST00000697909.1:n.602+3420_602+3421insAA
ENST00000357276.9:c.1710+3420_1710+3421insAA MANE Select	ENSP00000349823.4:n.1710+3420_1710+3421in...
ENST00000357276.8:c.1710+3420_1710+3421insAA	ENSP00000349823.4:n.1710+3420_1710+3421in...
ENST00000358207.9:c.1710+3420_1710+3421insAA	ENSP00000350940.5:n.1710+3420_1710+3421in...
ENST00000392128.6:c.1237-5113_1237-5112insAA	ENSP00000375974.2:n.1237-5113_1237-5112in...
ENST00000445153.1:c.383+3420_383+3421insAA
NM_001127207.1:c.1710+3420_1710+3421insAA	NP_001120679.1:n.1710+3420_1710+3421insAA...
NM_014140.3:c.1710+3420_1710+3421insAA , LRG_108t1:c.1710+3420_1710+3421insAA	NP_054859.2:n.1710+3420_1710+3421insAA
XM_005246631.2:c.1710+3420_1710+3421insAA	XP_005246688.1:n.1710+3420_1710+3421insAA...
XM_005246632.1:c.1710+3420_1710+3421insAA	XP_005246689.1:n.1710+3420_1710+3421insAA...
XM_006712557.1:c.1645-5113_1645-5112insAA	XP_006712620.1:n.1645-5113_1645-5112insAA...
XM_005246632.2:c.1710+3420_1710+3421insAA	XP_005246689.1:n.1710+3420_1710+3421insAA...
XM_017004228.2:c.798+3420_798+3421insAA	XP_016859717.1:n.798+3420_798+3421insAA
NM_001127207.2:c.1710+3420_1710+3421insAA	NP_001120679.1:n.1710+3420_1710+3421insAA...
NM_014140.4:c.1710+3420_1710+3421insAA MANE Select	NP_054859.2:n.1710+3420_1710+3421insAA