Canonical Allele Identifier: CA596112046

Gene: SMC3

Linked Data

• dbSNP Id: rs1308430608
• gnomAD v2: 10-112361687-AAATTT-A
• gnomAD v4: 10-110601929-AAATTT-A
• MyVariant Identifiers: chr10:g.112361688_112361692del (hg19) ; chr10:g.110601930_110601934del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.110601931_110601935del , CM000672.2:g.110601931_110601935del	GRCh38
NC_000010.10:g.112361689_112361693del , CM000672.1:g.112361689_112361693del	GRCh37
NC_000010.9:g.112351679_112351683del	NCBI36
NG_012217.1:g.39241_39245del , LRG_774:g.39241_39245del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684988.1:n.5126-35_5126-31del
ENST00000685743.1:n.2601-35_2601-31del
ENST00000686057.1:n.1244-35_1244-31del
ENST00000689321.1:n.1856-35_1856-31del
ENST00000689986.1:n.682-35_682-31del
ENST00000361804.5:c.2893-35_2893-31del MANE Select	ENSP00000354720.5:n.2893-35_2893-31del
ENST00000361804.4:c.2893-35_2893-31del	ENSP00000354720.4:n.2893-35_2893-31del
NM_005445.3:c.2893-35_2893-31del , LRG_774t1:c.2893-35_2893-31del	NP_005436.1:n.2893-35_2893-31del
NM_005445.4:c.2893-35_2893-31del MANE Select	NP_005436.1:n.2893-35_2893-31del