Canonical Allele Identifier: CA2556261426

Gene: SMC1A

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.53412066_53412067insATACGGCGACCA , CM000685.2:g.53412066_53412067insATACGGCGACCA	GRCh38
NC_000023.10:g.53439016_53439017insATACGGCGACCA , CM000685.1:g.53439016_53439017insATACGGCGACCA	GRCh37
NC_000023.9:g.53455741_53455742insATACGGCGACCA	NCBI36
NG_006988.2:g.15604_15605insTGGTCGCCGTAT , LRG_773:g.15604_15605insTGGTCGCCGTAT

Transcript Alleles

HGVS	Amino-acid change
ENST00000322213.9:c.1041_1042insTGGTCGCCGTAT MANE Select	ENSP00000323421.3:p.Arg347_Gln348insTrpSerProTyr
ENST00000674590.1:c.346-166_346-165insTGGTCGCCGTAT	ENSP00000502626.1:n.346-166_346-165insTGGTCGCCGTAT
ENST00000675065.1:n.466-166_466-165insTGGTCGCCGTAT
ENST00000675504.1:c.975_976insTGGTCGCCGTAT	ENSP00000502524.1:p.Arg325_Gln326insTrpSerProTyr
ENST00000322213.8:c.1041_1042insTGGTCGCCGTAT	ENSP00000323421.3:p.Arg347_Gln348insTrpSerProTyr
ENST00000375340.10:c.975_976insTGGTCGCCGTAT	ENSP00000364489.7:p.Arg325_Gln326insTrpSerProTyr
ENST00000463684.1:c.*574_*575insTGGTCGCCGTAT	ENSP00000476958.1:n.*574_*575insTGGTCGCCGTAT
NM_001281463.1:c.975_976insTGGTCGCCGTAT , LRG_773t1:c.975_976insTGGTCGCCGTAT	NP_001268392.1:p.Arg325_Gln326insTrpSerProTyr
NM_006306.3:c.1041_1042insTGGTCGCCGTAT , LRG_773t2:c.1041_1042insTGGTCGCCGTAT	NP_006297.2:p.Arg347_Gln348insTrpSerProTyr
NM_006306.4:c.1041_1042insTGGTCGCCGTAT MANE Select	NP_006297.2:p.Arg347_Gln348insTrpSerProTyr