Canonical Allele Identifier: CA2529320028

Gene: SMC3

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.110578658_110578659insATTAGGGAG , CM000672.2:g.110578658_110578659insATTAGGGAG	GRCh38
NC_000010.10:g.112338416_112338417insATTAGGGAG , CM000672.1:g.112338416_112338417insATTAGGGAG	GRCh37
NC_000010.9:g.112328406_112328407insATTAGGGAG	NCBI36
NG_012217.1:g.15968_15969insATTAGGGAG , LRG_774:g.15968_15969insATTAGGGAG

Transcript Alleles

HGVS	Amino-acid change
ENST00000684988.1:n.514_515insATTAGGGAG
ENST00000687823.1:n.295_296insATTAGGGAG
ENST00000689932.1:n.2444_2445insATTAGGGAG
ENST00000691297.1:n.514_515insATTAGGGAG
ENST00000691527.1:n.1184_1185insATTAGGGAG
ENST00000692792.1:n.500_501insATTAGGGAG
ENST00000361804.5:c.381_382insATTAGGGAG MANE Select	ENSP00000354720.5:p.Ser127_Ala128insIleArgGlu
ENST00000361804.4:c.381_382insATTAGGGAG	ENSP00000354720.4:p.Ser127_Ala128insIleArgGlu
ENST00000462899.1:n.527_528insATTAGGGAG
NM_005445.3:c.381_382insATTAGGGAG , LRG_774t1:c.381_382insATTAGGGAG	NP_005436.1:p.Ser127_Ala128insIleArgGlu
NM_005445.4:c.381_382insATTAGGGAG MANE Select	NP_005436.1:p.Ser127_Ala128insIleArgGlu