Canonical Allele Identifier: CA2429827542

Gene: SMC1A

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.53412284_53412285delinsAG , CM000685.2:g.53412284_53412285delinsAG	GRCh38
NC_000023.10:g.53439234_53439235delinsAG , CM000685.1:g.53439234_53439235delinsAG	GRCh37
NC_000023.9:g.53455959_53455960delinsAG	NCBI36
NG_006988.2:g.15386_15387delinsCT , LRG_773:g.15386_15387delinsCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000322213.9:c.855-32_855-31delinsCT MANE Select	ENSP00000323421.3:n.855-32_855-31delinsCT
ENST00000674590.1:c.346-384_346-383delinsCT	ENSP00000502626.1:n.346-384_346-383delinsCT
ENST00000675065.1:n.466-384_466-383delinsCT
ENST00000675504.1:c.789-32_789-31delinsCT	ENSP00000502524.1:n.789-32_789-31delinsCT
ENST00000322213.8:c.855-32_855-31delinsCT	ENSP00000323421.3:n.855-32_855-31delinsCT
ENST00000375340.10:c.789-32_789-31delinsCT	ENSP00000364489.7:n.789-32_789-31delinsCT
ENST00000463684.1:c.*388-32_*388-31delinsCT	ENSP00000476958.1:n.*388-32_*388-31delinsCT
NM_001281463.1:c.789-32_789-31delinsCT , LRG_773t1:c.789-32_789-31delinsCT	NP_001268392.1:n.789-32_789-31delinsCT
NM_006306.3:c.855-32_855-31delinsCT , LRG_773t2:c.855-32_855-31delinsCT	NP_006297.2:n.855-32_855-31delinsCT
NM_006306.4:c.855-32_855-31delinsCT MANE Select	NP_006297.2:n.855-32_855-31delinsCT