Canonical Allele Identifier: CA596112048

Gene: SMC3

Linked Data

• dbSNP Id: rs1366252086
• gnomAD v2: 10-112361688-AATTT-A
• gnomAD v3: 10-110601930-AATTT-A
• gnomAD v4: 10-110601930-AATTT-A
• MyVariant Identifiers: chr10:g.112361689_112361692del (hg19) ; chr10:g.110601931_110601934del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.110601937_110601940del , CM000672.2:g.110601937_110601940del	GRCh38
NC_000010.10:g.112361695_112361698del , CM000672.1:g.112361695_112361698del	GRCh37
NC_000010.9:g.112351685_112351688del	NCBI36
NG_012217.1:g.39247_39250del , LRG_774:g.39247_39250del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684988.1:n.5126-29_5126-26del
ENST00000685743.1:n.2601-29_2601-26del
ENST00000686057.1:n.1244-29_1244-26del
ENST00000689321.1:n.1856-29_1856-26del
ENST00000689986.1:n.682-29_682-26del
ENST00000361804.5:c.2893-29_2893-26del MANE Select	ENSP00000354720.5:n.2893-29_2893-26del
ENST00000361804.4:c.2893-29_2893-26del	ENSP00000354720.4:n.2893-29_2893-26del
NM_005445.3:c.2893-29_2893-26del , LRG_774t1:c.2893-29_2893-26del	NP_005436.1:n.2893-29_2893-26del
NM_005445.4:c.2893-29_2893-26del MANE Select	NP_005436.1:n.2893-29_2893-26del