Canonical Allele Identifier: CA659833287

Gene: SMC3

Linked Data

• dbSNP Id: rs1217599639
• gnomAD v4: 10-110573806-T-TA
• MyVariant Identifiers: chr10:g.112333564_112333565insA (hg19) ; chr10:g.110573806_110573807insA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.110573810dup , CM000672.2:g.110573810dup	GRCh38
NC_000010.10:g.112333568dup , CM000672.1:g.112333568dup	GRCh37
NC_000010.9:g.112323558dup	NCBI36
NG_012217.1:g.11120dup , LRG_774:g.11120dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684988.1:n.263+65dup
ENST00000687823.1:n.45-1526dup
ENST00000689932.1:n.668dup
ENST00000691297.1:n.263+65dup
ENST00000691527.1:n.220+65dup
ENST00000692792.1:n.249+65dup
ENST00000361804.5:c.130+65dup MANE Select	ENSP00000354720.5:n.130+65dup
ENST00000361804.4:c.130+65dup	ENSP00000354720.4:n.130+65dup
ENST00000462899.1:n.276+65dup
NM_005445.3:c.130+65dup , LRG_774t1:c.130+65dup	NP_005436.1:n.130+65dup
NM_005445.4:c.130+65dup MANE Select	NP_005436.1:n.130+65dup