Canonical Allele Identifier: CA2820946882

Gene: SMC1A

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.53405568_53405569insACAAAACCAAACACACCCAAC , CM000685.2:g.53405568_53405569insACAAAACCAAACACACCCAAC	GRCh38
NC_000023.10:g.53432500_53432501insACAAAACCAAACACACCCAAC , CM000685.1:g.53432500_53432501insACAAAACCAAACACACCCAAC	GRCh37
NC_000023.9:g.53449225_53449226insACAAAACCAAACACACCCAAC	NCBI36
NG_006988.2:g.22102_22103insGTTGGGTGTGTTTGGTTTTGT , LRG_773:g.22102_22103insGTTGGGTGTGTTTGGTTTTGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000322213.9:c.1835_1836insGTTGGGTGTGTTTGGTTTTGT MANE Select	ENSP00000323421.3:p.Ala612_Cys613insLeuGlyValPheGlyPheVal
ENST00000674590.1:c.1067_1068insGTTGGGTGTGTTTGGTTTTGT	ENSP00000502626.1:p.Ala356_Cys357insLeuGlyValPheGlyPheVal
ENST00000675065.1:n.1187_1188insGTTGGGTGTGTTTGGTTTTGT
ENST00000675504.1:c.1769_1770insGTTGGGTGTGTTTGGTTTTGT	ENSP00000502524.1:p.Ala590_Cys591insLeuGlyValPheGlyPheVal
ENST00000322213.8:c.1835_1836insGTTGGGTGTGTTTGGTTTTGT	ENSP00000323421.3:p.Ala612_Cys613insLeuGlyValPheGlyPheVal
ENST00000375340.10:c.1769_1770insGTTGGGTGTGTTTGGTTTTGT	ENSP00000364489.7:p.Ala590_Cys591insLeuGlyValPheGlyPheVal
NM_001281463.1:c.1769_1770insGTTGGGTGTGTTTGGTTTTGT , LRG_773t1:c.1769_1770insGTTGGGTGTGTTTGGTTTTGT	NP_001268392.1:p.Ala590_Cys591insLeuGlyValPheGlyPheVal
NM_006306.3:c.1835_1836insGTTGGGTGTGTTTGGTTTTGT , LRG_773t2:c.1835_1836insGTTGGGTGTGTTTGGTTTTGT	NP_006297.2:p.Ala612_Cys613insLeuGlyValPheGlyPheVal
NM_006306.4:c.1835_1836insGTTGGGTGTGTTTGGTTTTGT MANE Select	NP_006297.2:p.Ala612_Cys613insLeuGlyValPheGlyPheVal