Canonical Allele Identifier: CA2555886609

Gene: SMC1A

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.53380677_53380688del , CM000685.2:g.53380677_53380688del	GRCh38
NC_000023.10:g.53407598_53407609del , CM000685.1:g.53407598_53407609del	GRCh37
NC_000023.9:g.53424323_53424334del	NCBI36
NG_006988.2:g.46983_46994del , LRG_773:g.46983_46994del

Transcript Alleles

HGVS	Amino-acid change
ENST00000322213.9:c.3550_3561del MANE Select	ENSP00000323421.3:p.Ala1184_Ile1187del
ENST00000674590.1:c.2782_2793del	ENSP00000502626.1:p.Ala928_Ile931del
ENST00000675504.1:c.3484_3495del	ENSP00000502524.1:p.Ala1162_Ile1165del
ENST00000322213.8:c.3550_3561del	ENSP00000323421.3:p.Ala1184_Ile1187del
ENST00000375340.10:c.3484_3495del	ENSP00000364489.7:p.Ala1162_Ile1165del
ENST00000470241.2:c.770_781del
NM_001281463.1:c.3484_3495del , LRG_773t1:c.3484_3495del	NP_001268392.1:p.Ala1162_Ile1165del
NM_006306.3:c.3550_3561del , LRG_773t2:c.3550_3561del	NP_006297.2:p.Ala1184_Ile1187del
NM_006306.4:c.3550_3561del MANE Select	NP_006297.2:p.Ala1184_Ile1187del