Canonical Allele Identifier: CA932510981

Gene: SMC3

Linked Data

• dbSNP Id: rs1860933396
• gnomAD v3: 10-110575453-ATAAAT-A
• gnomAD v4: 10-110575453-ATAAAT-A

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.110575455_110575459del , CM000672.2:g.110575455_110575459del	GRCh38
NC_000010.10:g.112335213_112335217del , CM000672.1:g.112335213_112335217del	GRCh37
NC_000010.9:g.112325203_112325207del	NCBI36
NG_012217.1:g.12765_12769del , LRG_774:g.12765_12769del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684988.1:n.331+52_331+56del
ENST00000687823.1:n.112+52_112+56del
ENST00000689932.1:n.2261+52_2261+56del
ENST00000691297.1:n.331+52_331+56del
ENST00000691527.1:n.288+52_288+56del
ENST00000692792.1:n.317+52_317+56del
ENST00000361804.5:c.198+52_198+56del MANE Select	ENSP00000354720.5:n.198+52_198+56del
ENST00000361804.4:c.198+52_198+56del	ENSP00000354720.4:n.198+52_198+56del
ENST00000462899.1:n.344+52_344+56del
NM_005445.3:c.198+52_198+56del , LRG_774t1:c.198+52_198+56del	NP_005436.1:n.198+52_198+56del
NM_005445.4:c.198+52_198+56del MANE Select	NP_005436.1:n.198+52_198+56del