Canonical Allele Identifier: CA2429816149

Gene: SMC1A

Linked Data

• dbSNP Id: rs2075567244

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.53378088_53378093del , CM000685.2:g.53378088_53378093del	GRCh38
NC_000023.10:g.53405009_53405014del , CM000685.1:g.53405009_53405014del	GRCh37
NC_000023.9:g.53421734_53421739del	NCBI36
NG_006988.2:g.49580_49585del , LRG_773:g.49580_49585del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000322213.9:c.*2012_*2017del MANE Select	ENSP00000323421.3:n.*2012_*2017del
ENST00000675504.1:c.*2012_*2017del	ENSP00000502524.1:n.*2012_*2017del
ENST00000322213.8:c.*2012_*2017del	ENSP00000323421.3:n.*2012_*2017del
ENST00000375340.10:c.*2012_*2017del	ENSP00000364489.7:n.*2012_*2017del
NM_001281463.1:c.*2012_*2017del , LRG_773t1:c.*2012_*2017del	NP_001268392.1:n.*2012_*2017del
NM_006306.3:c.*2012_*2017del , LRG_773t2:c.*2012_*2017del	NP_006297.2:n.*2012_*2017del
NM_006306.4:c.*2012_*2017del MANE Select	NP_006297.2:n.*2012_*2017del