Canonical Allele Identifier: CA2610884196
Gene: SMC3 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.110578802_110578803del , CM000672.2:g.110578802_110578803del GRCh38
NC_000010.10:g.112338560_112338561del , CM000672.1:g.112338560_112338561del GRCh37
NC_000010.9:g.112328550_112328551del NCBI36
NG_012217.1:g.16112_16113del , LRG_774:g.16112_16113del

Transcript Alleles

HGVS Amino-acid Change
ENST00000684988.1:n.562+96_562+97del
ENST00000687823.1:n.343+96_343+97del
ENST00000689932.1:n.2492+96_2492+97del
ENST00000691297.1:n.562+96_562+97del
ENST00000691527.1:n.1232+96_1232+97del
ENST00000692792.1:n.548+96_548+97del
ENST00000361804.5:c.429+96_429+97del MANE Select ENSP00000354720.5:n.429+96_429+97del
ENST00000361804.4:c.429+96_429+97del ENSP00000354720.4:n.429+96_429+97del
ENST00000462899.1:n.575+96_575+97del
NM_005445.3:c.429+96_429+97del , LRG_774t1:c.429+96_429+97del NP_005436.1:n.429+96_429+97del
NM_005445.4:c.429+96_429+97del MANE Select NP_005436.1:n.429+96_429+97del