Canonical Allele Identifier: CA2610887853

Gene: SMC3

Linked Data

• gnomAD v4: 10-110573816-A-AATTT

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.110573817_110573820dup , CM000672.2:g.110573817_110573820dup	GRCh38
NC_000010.10:g.112333575_112333578dup , CM000672.1:g.112333575_112333578dup	GRCh37
NC_000010.9:g.112323565_112323568dup	NCBI36
NG_012217.1:g.11127_11130dup , LRG_774:g.11127_11130dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684988.1:n.263+72_263+75dup
ENST00000687823.1:n.45-1519_45-1516dup
ENST00000689932.1:n.675_678dup
ENST00000691297.1:n.263+72_263+75dup
ENST00000691527.1:n.220+72_220+75dup
ENST00000692792.1:n.249+72_249+75dup
ENST00000361804.5:c.130+72_130+75dup MANE Select	ENSP00000354720.5:n.130+72_130+75dup
ENST00000361804.4:c.130+72_130+75dup	ENSP00000354720.4:n.130+72_130+75dup
ENST00000462899.1:n.276+72_276+75dup
NM_005445.3:c.130+72_130+75dup , LRG_774t1:c.130+72_130+75dup	NP_005436.1:n.130+72_130+75dup
NM_005445.4:c.130+72_130+75dup MANE Select	NP_005436.1:n.130+72_130+75dup