Canonical Allele Identifier: CA213225520

Gene: SMC3

Linked Data

• dbSNP Id: rs899201216
• MyVariant Identifiers: chr10:g.112333532_112333534del (hg19) ; chr10:g.110573774_110573776del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.110573776_110573778del , CM000672.2:g.110573776_110573778del	GRCh38
NC_000010.10:g.112333534_112333536del , CM000672.1:g.112333534_112333536del	GRCh37
NC_000010.9:g.112323524_112323526del	NCBI36
NG_012217.1:g.11086_11088del , LRG_774:g.11086_11088del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684988.1:n.263+31_263+33del
ENST00000687823.1:n.45-1560_45-1558del
ENST00000689932.1:n.634_636del
ENST00000691297.1:n.263+31_263+33del
ENST00000691527.1:n.220+31_220+33del
ENST00000692792.1:n.249+31_249+33del
ENST00000361804.5:c.130+31_130+33del MANE Select	ENSP00000354720.5:n.130+31_130+33del
ENST00000361804.4:c.130+31_130+33del	ENSP00000354720.4:n.130+31_130+33del
ENST00000462899.1:n.276+31_276+33del
NM_005445.3:c.130+31_130+33del , LRG_774t1:c.130+31_130+33del	NP_005436.1:n.130+31_130+33del
NM_005445.4:c.130+31_130+33del MANE Select	NP_005436.1:n.130+31_130+33del