Canonical Allele Identifier: CA539838417
Gene: SMARCAL1 HGNC NCBI

Linked Data

dbSNP Id: rs1338985189

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.216415009_216415023del , CM000664.2:g.216415009_216415023del GRCh38
NC_000002.11:g.217279732_217279746del , CM000664.1:g.217279732_217279746del GRCh37
NC_000002.10:g.216987977_216987991del NCBI36
NG_009771.1:g.7596_7610del , LRG_108:g.7596_7610del

Transcript Alleles

HGVS Amino-acid Change
ENST00000425815.6:c.305_319del ENSP00000394410.2:p.Glu102_Thr106del
ENST00000430374.6:c.305_319del ENSP00000405077.2:p.Glu102_Thr106del
ENST00000444508.6:c.305_319del ENSP00000398969.2:p.Glu102_Thr106del
ENST00000697898.1:n.666_680del
ENST00000697899.1:c.305_319del ENSP00000513470.1:p.Glu102_Thr106del
ENST00000697900.1:n.581_595del
ENST00000697901.1:c.305_319del ENSP00000513471.1:p.Glu102_Thr106del
ENST00000697902.1:n.537_551del
ENST00000697903.1:c.305_319del ENSP00000513472.1:p.Glu102_Thr106del
ENST00000697904.1:c.305_319del ENSP00000513473.1:p.Glu102_Thr106del
ENST00000697905.1:c.305_319del ENSP00000513474.1:p.Glu102_Thr106del
ENST00000697906.1:c.305_319del ENSP00000513475.1:p.Glu102_Thr106del
ENST00000697907.1:c.305_319del ENSP00000513476.1:p.Glu102_Thr106del
ENST00000357276.9:c.305_319del MANE Select ENSP00000349823.4:p.Glu102_Thr106del
ENST00000357276.8:c.305_319del ENSP00000349823.4:p.Glu102_Thr106del
ENST00000358207.9:c.305_319del ENSP00000350940.5:p.Glu102_Thr106del
ENST00000430374.5:c.305_319del ENSP00000405077.1:p.Glu102_Thr106del
ENST00000444508.5:c.305_319del ENSP00000398969.1:p.Glu102_Thr106del
NM_001127207.1:c.305_319del NP_001120679.1:p.Glu102_Thr106del
NM_014140.3:c.305_319del , LRG_108t1:c.305_319del NP_054859.2:p.Glu102_Thr106del
XM_005246631.2:c.305_319del XP_005246688.1:p.Glu102_Thr106del
XM_005246632.1:c.305_319del XP_005246689.1:p.Glu102_Thr106del
XM_006712557.1:c.305_319del XP_006712620.1:p.Glu102_Thr106del
XM_005246632.2:c.305_319del XP_005246689.1:p.Glu102_Thr106del
XM_017004228.2:c.-612_-598del XP_016859717.1:n.-612_-598del
NM_001127207.2:c.305_319del NP_001120679.1:p.Glu102_Thr106del
NM_014140.4:c.305_319del MANE Select NP_054859.2:p.Glu102_Thr106del