Canonical Allele Identifier: CA2541682257

Gene: SMC3

Linked Data

• gnomAD v4: 10-110601774-C-CTAAGATG

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.110601774_110601775insTAAGATG , CM000672.2:g.110601774_110601775insTAAGATG	GRCh38
NC_000010.10:g.112361532_112361533insTAAGATG , CM000672.1:g.112361532_112361533insTAAGATG	GRCh37
NC_000010.9:g.112351522_112351523insTAAGATG	NCBI36
NG_012217.1:g.39084_39085insTAAGATG , LRG_774:g.39084_39085insTAAGATG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684988.1:n.5015_5016insTAAGATG
ENST00000685743.1:n.2490_2491insTAAGATG
ENST00000686057.1:n.1133_1134insTAAGATG
ENST00000689321.1:n.1745_1746insTAAGATG
ENST00000689986.1:n.571_572insTAAGATG
ENST00000361804.5:c.2782_2783insTAAGATG MANE Select	ENSP00000354720.5:p.Arg928LeufsTer30
ENST00000361804.4:c.2782_2783insTAAGATG	ENSP00000354720.4:p.Arg928LeufsTer30
NM_005445.3:c.2782_2783insTAAGATG , LRG_774t1:c.2782_2783insTAAGATG	NP_005436.1:p.Arg928LeufsTer30
NM_005445.4:c.2782_2783insTAAGATG MANE Select	NP_005436.1:p.Arg928LeufsTer30