Canonical Allele Identifier: CA2565733562

Gene: SMC1A

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.53412060_53412064del , CM000685.2:g.53412060_53412064del	GRCh38
NC_000023.10:g.53439010_53439014del , CM000685.1:g.53439010_53439014del	GRCh37
NC_000023.9:g.53455735_53455739del	NCBI36
NG_006988.2:g.15607_15611del , LRG_773:g.15607_15611del

Transcript Alleles

HGVS	Amino-acid change
ENST00000322213.9:c.1044_1048del MANE Select	ENSP00000323421.3:p.Gln348HisfsTer2
ENST00000674590.1:c.346-163_346-159del	ENSP00000502626.1:n.346-163_346-159del
ENST00000675065.1:n.466-163_466-159del
ENST00000675504.1:c.978_982del	ENSP00000502524.1:p.Gln326HisfsTer2
ENST00000322213.8:c.1044_1048del	ENSP00000323421.3:p.Gln348HisfsTer2
ENST00000375340.10:c.978_982del	ENSP00000364489.7:p.Gln326HisfsTer2
ENST00000463684.1:c.*577_*581del	ENSP00000476958.1:n.*577_*581del
NM_001281463.1:c.978_982del , LRG_773t1:c.978_982del	NP_001268392.1:p.Gln326HisfsTer2
NM_006306.3:c.1044_1048del , LRG_773t2:c.1044_1048del	NP_006297.2:p.Gln348HisfsTer2
NM_006306.4:c.1044_1048del MANE Select	NP_006297.2:p.Gln348HisfsTer2