Canonical Allele Identifier: CA2548188918

Gene: SMC1A

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.53380664_53380665insGGTGGT , CM000685.2:g.53380664_53380665insGGTGGT	GRCh38
NC_000023.10:g.53407585_53407586insGGTGGT , CM000685.1:g.53407585_53407586insGGTGGT	GRCh37
NC_000023.9:g.53424310_53424311insGGTGGT	NCBI36
NG_006988.2:g.47006_47007insACCACC , LRG_773:g.47006_47007insACCACC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000322213.9:c.3573_3574insACCACC MANE Select	ENSP00000323421.3:p.Glu1191_Glu1192insThrThr
ENST00000674590.1:c.2805_2806insACCACC	ENSP00000502626.1:p.Glu935_Glu936insThrThr
ENST00000675504.1:c.3507_3508insACCACC	ENSP00000502524.1:p.Glu1169_Glu1170insThrThr
ENST00000322213.8:c.3573_3574insACCACC	ENSP00000323421.3:p.Glu1191_Glu1192insThrThr
ENST00000375340.10:c.3507_3508insACCACC	ENSP00000364489.7:p.Glu1169_Glu1170insThrThr
ENST00000470241.2:c.793_794insACCACC
NM_001281463.1:c.3507_3508insACCACC , LRG_773t1:c.3507_3508insACCACC	NP_001268392.1:p.Glu1169_Glu1170insThrThr
NM_006306.3:c.3573_3574insACCACC , LRG_773t2:c.3573_3574insACCACC	NP_006297.2:p.Glu1191_Glu1192insThrThr
NM_006306.4:c.3573_3574insACCACC MANE Select	NP_006297.2:p.Glu1191_Glu1192insThrThr