Canonical Allele Identifier: CA2695234305

Gene: SMC1A

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.53380667_53380669del , CM000685.2:g.53380667_53380669del	GRCh38
NC_000023.10:g.53407588_53407590del , CM000685.1:g.53407588_53407590del	GRCh37
NC_000023.9:g.53424313_53424315del	NCBI36
NG_006988.2:g.47007_47009del , LRG_773:g.47007_47009del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000322213.9:c.3574_3576del MANE Select	ENSP00000323421.3:p.Glu1192del
ENST00000674590.1:c.2806_2808del	ENSP00000502626.1:p.Glu936del
ENST00000675504.1:c.3508_3510del	ENSP00000502524.1:p.Glu1170del
ENST00000322213.8:c.3574_3576del	ENSP00000323421.3:p.Glu1192del
ENST00000375340.10:c.3508_3510del	ENSP00000364489.7:p.Glu1170del
ENST00000470241.2:c.794_796del
NM_001281463.1:c.3508_3510del , LRG_773t1:c.3508_3510del	NP_001268392.1:p.Glu1170del
NM_006306.3:c.3574_3576del , LRG_773t2:c.3574_3576del	NP_006297.2:p.Glu1192del
NM_006306.4:c.3574_3576del MANE Select	NP_006297.2:p.Glu1192del