Canonical Allele Identifier: CA2429817346

Gene: SMC1A

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.53382068_53382069delinsGA , CM000685.2:g.53382068_53382069delinsGA	GRCh38
NC_000023.10:g.53408989_53408990delinsGA , CM000685.1:g.53408989_53408990delinsGA	GRCh37
NC_000023.9:g.53425714_53425715delinsGA	NCBI36
NG_006988.2:g.45602_45603delinsTC , LRG_773:g.45602_45603delinsTC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000322213.9:c.3437+163_3437+164delinsTC MANE Select	ENSP00000323421.3:n.3437+163_3437+164delinsTC
ENST00000674590.1:c.2669+163_2669+164delinsTC	ENSP00000502626.1:n.2669+163_2669+164delinsTC
ENST00000675504.1:c.3371+163_3371+164delinsTC	ENSP00000502524.1:n.3371+163_3371+164delinsTC
ENST00000322213.8:c.3437+163_3437+164delinsTC	ENSP00000323421.3:n.3437+163_3437+164delinsTC
ENST00000375340.10:c.3371+163_3371+164delinsTC	ENSP00000364489.7:n.3371+163_3371+164delinsTC
ENST00000469129.1:n.456_457delinsTC
ENST00000470241.2:c.727+163_727+164delinsTC
NM_001281463.1:c.3371+163_3371+164delinsTC , LRG_773t1:c.3371+163_3371+164delinsTC	NP_001268392.1:n.3371+163_3371+164delinsTC
NM_006306.3:c.3437+163_3437+164delinsTC , LRG_773t2:c.3437+163_3437+164delinsTC	NP_006297.2:n.3437+163_3437+164delinsTC
NM_006306.4:c.3437+163_3437+164delinsTC MANE Select	NP_006297.2:n.3437+163_3437+164delinsTC