Canonical Allele Identifier: CA2610883968
Gene: SMC3 HGNC NCBI

Linked Data

gnomAD v4: 10-110578653-GA-G
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.110578656del , CM000672.2:g.110578656del GRCh38
NC_000010.10:g.112338414del , CM000672.1:g.112338414del GRCh37
NC_000010.9:g.112328404del NCBI36
NG_012217.1:g.15966del , LRG_774:g.15966del

Transcript Alleles

HGVS Amino-acid change
ENST00000684988.1:n.512del
ENST00000687823.1:n.293del
ENST00000689932.1:n.2442del
ENST00000691297.1:n.512del
ENST00000691527.1:n.1182del
ENST00000692792.1:n.498del
ENST00000361804.5:c.379del MANE Select ENSP00000354720.5:p.Ser127AlafsTer30
ENST00000361804.4:c.379del ENSP00000354720.4:p.Ser127AlafsTer30
ENST00000462899.1:n.525del
NM_005445.3:c.379del , LRG_774t1:c.379del NP_005436.1:p.Ser127AlafsTer30
NM_005445.4:c.379del MANE Select NP_005436.1:p.Ser127AlafsTer30
Search 100 bp 5'
Search 100 bp 3'