Canonical Allele Identifier: CA5687631

Gene: SMC3

Linked Data

• dbSNP Id: rs762015084
• ExAC: 10:112333548 T / TGTAA
• MyVariant Identifiers: chr10:g.112333548_112333549insGTAA (hg19) ; chr10:g.110573790_110573791insGTAA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.110573790_110573791insGTAA , CM000672.2:g.110573790_110573791insGTAA	GRCh38
NC_000010.10:g.112333548_112333549insGTAA , CM000672.1:g.112333548_112333549insGTAA	GRCh37
NC_000010.9:g.112323538_112323539insGTAA	NCBI36
NG_012217.1:g.11100_11101insGTAA , LRG_774:g.11100_11101insGTAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684988.1:n.263+45_263+46insGTAA
ENST00000687823.1:n.45-1546_45-1545insGTAA
ENST00000689932.1:n.648_649insGTAA
ENST00000691297.1:n.263+45_263+46insGTAA
ENST00000691527.1:n.220+45_220+46insGTAA
ENST00000692792.1:n.249+45_249+46insGTAA
ENST00000361804.5:c.130+45_130+46insGTAA MANE Select	ENSP00000354720.5:n.130+45_130+46insGTAA
ENST00000361804.4:c.130+45_130+46insGTAA	ENSP00000354720.4:n.130+45_130+46insGTAA
ENST00000462899.1:n.276+45_276+46insGTAA
NM_005445.3:c.130+45_130+46insGTAA , LRG_774t1:c.130+45_130+46insGTAA	NP_005436.1:n.130+45_130+46insGTAA
NM_005445.4:c.130+45_130+46insGTAA MANE Select	NP_005436.1:n.130+45_130+46insGTAA