Canonical Allele Identifier: CA2429826625

Gene: SMC1A

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.53409258_53409265delinsTCTAGGGA , CM000685.2:g.53409258_53409265delinsTCTAGGGA	GRCh38
NC_000023.10:g.53436189_53436196delinsTCTAGGGA , CM000685.1:g.53436189_53436196delinsTCTAGGGA	GRCh37
NC_000023.9:g.53452914_53452921delinsTCTAGGGA	NCBI36
NG_006988.2:g.18406_18413delinsTCCCTAGA , LRG_773:g.18406_18413delinsTCCCTAGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000322213.9:c.1342_1349delinsTCCCTAGA MANE Select	ENSP00000323421.3:p.Ser448=
ENST00000674590.1:c.574_581delinsTCCCTAGA	ENSP00000502626.1:p.Ser192=
ENST00000675065.1:n.694_701delinsTCCCTAGA
ENST00000675504.1:c.1276_1283delinsTCCCTAGA	ENSP00000502524.1:p.Ser426=
ENST00000322213.8:c.1342_1349delinsTCCCTAGA	ENSP00000323421.3:p.Ser448=
ENST00000375340.10:c.1276_1283delinsTCCCTAGA	ENSP00000364489.7:p.Ser426=
NM_001281463.1:c.1276_1283delinsTCCCTAGA , LRG_773t1:c.1276_1283delinsTCCCTAGA	NP_001268392.1:p.Ser426=
NM_006306.3:c.1342_1349delinsTCCCTAGA , LRG_773t2:c.1342_1349delinsTCCCTAGA	NP_006297.2:p.Ser448=
NM_006306.4:c.1342_1349delinsTCCCTAGA MANE Select	NP_006297.2:p.Ser448=