Canonical Allele Identifier: CA932519547
Gene: SMC3 HGNC NCBI

Linked Data

dbSNP Id: rs1861389597
gnomAD v3: 10-110601710-TA-T
gnomAD v4: 10-110601710-TA-T
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.110601711del , CM000672.2:g.110601711del GRCh38
NC_000010.10:g.112361469del , CM000672.1:g.112361469del GRCh37
NC_000010.9:g.112351459del NCBI36
NG_012217.1:g.39021del , LRG_774:g.39021del

Transcript Alleles

HGVS Amino-acid Change
ENST00000684988.1:n.4952del
ENST00000685743.1:n.2427del
ENST00000686057.1:n.1070del
ENST00000689321.1:n.1682del
ENST00000689986.1:n.508del
ENST00000361804.5:c.2719del MANE Select ENSP00000354720.5:p.Met907TrpfsTer9
ENST00000361804.4:c.2719del ENSP00000354720.4:p.Met907TrpfsTer9
NM_005445.3:c.2719del , LRG_774t1:c.2719del NP_005436.1:p.Met907TrpfsTer9
NM_005445.4:c.2719del MANE Select NP_005436.1:p.Met907TrpfsTer9
Search 100 bp 5'
Search 100 bp 3'