Canonical Allele Identifier: CA5688341

Gene: SMC3

Linked Data

• dbSNP Id: rs762809090
• ExAC: 10:112361963 TACAC / T
• gnomAD v2: 10-112361963-TACAC-T
• gnomAD v3: 10-110602205-TACAC-T
• gnomAD v4: 10-110602205-TACAC-T
• MyVariant Identifiers: chr10:g.112361964_112361967del (hg19) ; chr10:g.110602206_110602209del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.110602209_110602212del , CM000672.2:g.110602209_110602212del	GRCh38
NC_000010.10:g.112361967_112361970del , CM000672.1:g.112361967_112361970del	GRCh37
NC_000010.9:g.112351957_112351960del	NCBI36
NG_012217.1:g.39519_39522del , LRG_774:g.39519_39522del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684988.1:n.5338+31_5338+34del
ENST00000685743.1:n.2813+31_2813+34del
ENST00000686057.1:n.1456+31_1456+34del
ENST00000689321.1:n.2068+31_2068+34del
ENST00000689986.1:n.894+31_894+34del
ENST00000361804.5:c.3105+31_3105+34del MANE Select	ENSP00000354720.5:n.3105+31_3105+34del
ENST00000361804.4:c.3105+31_3105+34del	ENSP00000354720.4:n.3105+31_3105+34del
NM_005445.3:c.3105+31_3105+34del , LRG_774t1:c.3105+31_3105+34del	NP_005436.1:n.3105+31_3105+34del
NM_005445.4:c.3105+31_3105+34del MANE Select	NP_005436.1:n.3105+31_3105+34del