Canonical Allele Identifier: CA2610884207

Gene: SMC3

Linked Data

• gnomAD v4: 10-110578809-T-TTCCTCATATATGAAGCA

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.110578809_110578810insTCCTCATATATGAAGCA , CM000672.2:g.110578809_110578810insTCCTCATATATGAAGCA	GRCh38
NC_000010.10:g.112338567_112338568insTCCTCATATATGAAGCA , CM000672.1:g.112338567_112338568insTCCTCATATATGAAGCA	GRCh37
NC_000010.9:g.112328557_112328558insTCCTCATATATGAAGCA	NCBI36
NG_012217.1:g.16119_16120insTCCTCATATATGAAGCA , LRG_774:g.16119_16120insTCCTCATATATGAAGCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684988.1:n.562+103_562+104insTCCTCATATATGAAGCA
ENST00000687823.1:n.343+103_343+104insTCCTCATATATGAAGCA
ENST00000689932.1:n.2492+103_2492+104insTCCTCATATATGAAGCA
ENST00000691297.1:n.562+103_562+104insTCCTCATATATGAAGCA
ENST00000691527.1:n.1232+103_1232+104insTCCTCATATATGAAGCA
ENST00000692792.1:n.548+103_548+104insTCCTCATATATGAAGCA
ENST00000361804.5:c.429+103_429+104insTCCTCATATATGAAGCA MANE Select	ENSP00000354720.5:n.429+103_429+104insTCCTCATATATGAAGCA
ENST00000361804.4:c.429+103_429+104insTCCTCATATATGAAGCA	ENSP00000354720.4:n.429+103_429+104insTCCTCATATATGAAGCA
ENST00000462899.1:n.575+103_575+104insTCCTCATATATGAAGCA
NM_005445.3:c.429+103_429+104insTCCTCATATATGAAGCA , LRG_774t1:c.429+103_429+104insTCCTCATATATGAAGCA	NP_005436.1:n.429+103_429+104insTCCTCATATATGAAGCA
NM_005445.4:c.429+103_429+104insTCCTCATATATGAAGCA MANE Select	NP_005436.1:n.429+103_429+104insTCCTCATATATGAAGCA