Canonical Allele Identifier: CA932519713

Gene: SMC3

Linked Data

• dbSNP Id: rs1861398399
• gnomAD v3: 10-110602211-CAG-C
• gnomAD v4: 10-110602211-CAG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.110602214_110602215del , CM000672.2:g.110602214_110602215del	GRCh38
NC_000010.10:g.112361972_112361973del , CM000672.1:g.112361972_112361973del	GRCh37
NC_000010.9:g.112351962_112351963del	NCBI36
NG_012217.1:g.39524_39525del , LRG_774:g.39524_39525del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684988.1:n.5338+36_5338+37del
ENST00000685743.1:n.2813+36_2813+37del
ENST00000686057.1:n.1456+36_1456+37del
ENST00000689321.1:n.2068+36_2068+37del
ENST00000689986.1:n.894+36_894+37del
ENST00000361804.5:c.3105+36_3105+37del MANE Select	ENSP00000354720.5:n.3105+36_3105+37del
ENST00000361804.4:c.3105+36_3105+37del	ENSP00000354720.4:n.3105+36_3105+37del
NM_005445.3:c.3105+36_3105+37del , LRG_774t1:c.3105+36_3105+37del	NP_005436.1:n.3105+36_3105+37del
NM_005445.4:c.3105+36_3105+37del MANE Select	NP_005436.1:n.3105+36_3105+37del