Canonical Allele Identifier: CA2610883290

Gene: SMC3

Linked Data

• gnomAD v4: 10-110577588-ATAAT-A

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.110577591_110577594del , CM000672.2:g.110577591_110577594del	GRCh38
NC_000010.10:g.112337349_112337352del , CM000672.1:g.112337349_112337352del	GRCh37
NC_000010.9:g.112327339_112327342del	NCBI36
NG_012217.1:g.14901_14904del , LRG_774:g.14901_14904del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684988.1:n.403+99_403+102del
ENST00000687823.1:n.184+99_184+102del
ENST00000689932.1:n.2333+99_2333+102del
ENST00000691297.1:n.403+99_403+102del
ENST00000691527.1:n.360+99_360+102del
ENST00000692792.1:n.389+99_389+102del
ENST00000361804.5:c.270+99_270+102del MANE Select	ENSP00000354720.5:n.270+99_270+102del
ENST00000361804.4:c.270+99_270+102del	ENSP00000354720.4:n.270+99_270+102del
ENST00000462899.1:n.416+99_416+102del
NM_005445.3:c.270+99_270+102del , LRG_774t1:c.270+99_270+102del	NP_005436.1:n.270+99_270+102del
NM_005445.4:c.270+99_270+102del MANE Select	NP_005436.1:n.270+99_270+102del