Canonical Allele Identifier: CA2528807567

Gene: SMC1A

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.53380665_53380666insGCCGTA , CM000685.2:g.53380665_53380666insGCCGTA	GRCh38
NC_000023.10:g.53407586_53407587insGCCGTA , CM000685.1:g.53407586_53407587insGCCGTA	GRCh37
NC_000023.9:g.53424311_53424312insGCCGTA	NCBI36
NG_006988.2:g.47005_47006insTACGGC , LRG_773:g.47005_47006insTACGGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000322213.9:c.3572_3573insTACGGC MANE Select	ENSP00000323421.3:p.Glu1191delinsAspThrAla
ENST00000674590.1:c.2804_2805insTACGGC	ENSP00000502626.1:p.Glu935delinsAspThrAla
ENST00000675504.1:c.3506_3507insTACGGC	ENSP00000502524.1:p.Glu1169delinsAspThrAla
ENST00000322213.8:c.3572_3573insTACGGC	ENSP00000323421.3:p.Glu1191delinsAspThrAla
ENST00000375340.10:c.3506_3507insTACGGC	ENSP00000364489.7:p.Glu1169delinsAspThrAla
ENST00000470241.2:c.792_793insTACGGC
NM_001281463.1:c.3506_3507insTACGGC , LRG_773t1:c.3506_3507insTACGGC	NP_001268392.1:p.Glu1169delinsAspThrAla
NM_006306.3:c.3572_3573insTACGGC , LRG_773t2:c.3572_3573insTACGGC	NP_006297.2:p.Glu1191delinsAspThrAla
NM_006306.4:c.3572_3573insTACGGC MANE Select	NP_006297.2:p.Glu1191delinsAspThrAla