Canonical Allele Identifier: CA1327827157
Gene: SMARCAL1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.216428614_216428615delinsTC , CM000664.2:g.216428614_216428615delinsTC GRCh38
NC_000002.11:g.217293337_217293338delinsTC , CM000664.1:g.217293337_217293338delinsTC GRCh37
NC_000002.10:g.217001582_217001583delinsTC NCBI36
NG_009771.1:g.21201_21202delinsTC , LRG_108:g.21201_21202delinsTC

Transcript Alleles

HGVS Amino-acid Change
ENST00000425815.6:c.1166_1167delinsTC ENSP00000394410.2:p.Leu389=
ENST00000430374.6:c.1166_1167delinsTC ENSP00000405077.2:p.Leu389=
ENST00000444508.6:c.1166_1167delinsTC ENSP00000398969.2:p.Leu389=
ENST00000697898.1:n.1527_1528delinsTC
ENST00000697899.1:c.932_933delinsTC ENSP00000513470.1:p.Leu311=
ENST00000697900.1:n.1442_1443delinsTC
ENST00000697901.1:c.*24_*25delinsTC ENSP00000513471.1:n.*24_*25delinsTC
ENST00000697902.1:n.1398_1399delinsTC
ENST00000697903.1:c.1166_1167delinsTC ENSP00000513472.1:p.Leu389=
ENST00000697904.1:c.1166_1167delinsTC ENSP00000513473.1:p.Leu389=
ENST00000697905.1:c.1166_1167delinsTC ENSP00000513474.1:p.Leu389=
ENST00000697906.1:c.932_933delinsTC ENSP00000513475.1:p.Leu311=
ENST00000697907.1:c.*24_*25delinsTC ENSP00000513476.1:n.*24_*25delinsTC
ENST00000697908.1:n.963_964delinsTC
ENST00000357276.9:c.1166_1167delinsTC MANE Select ENSP00000349823.4:p.Leu389=
ENST00000357276.8:c.1166_1167delinsTC ENSP00000349823.4:p.Leu389=
ENST00000358207.9:c.1166_1167delinsTC ENSP00000350940.5:p.Leu389=
ENST00000392128.6:c.758_759delinsTC ENSP00000375974.2:p.Leu253=
ENST00000412913.1:c.326_327delinsTC ENSP00000390248.1:p.Leu109=
ENST00000427645.5:c.812_813delinsTC ENSP00000392997.1:p.Leu271=
ENST00000479008.1:n.410_411delinsTC
NM_001127207.1:c.1166_1167delinsTC NP_001120679.1:p.Leu389=
NM_014140.3:c.1166_1167delinsTC , LRG_108t1:c.1166_1167delinsTC NP_054859.2:p.Leu389=
XM_005246631.2:c.1166_1167delinsTC XP_005246688.1:p.Leu389=
XM_005246632.1:c.1166_1167delinsTC XP_005246689.1:p.Leu389=
XM_006712557.1:c.1166_1167delinsTC XP_006712620.1:p.Leu389=
XM_005246632.2:c.1166_1167delinsTC XP_005246689.1:p.Leu389=
XM_017004228.2:c.254_255delinsTC XP_016859717.1:p.Leu85=
NM_001127207.2:c.1166_1167delinsTC NP_001120679.1:p.Leu389=
NM_014140.4:c.1166_1167delinsTC MANE Select NP_054859.2:p.Leu389=