Canonical Allele Identifier: CA596112073

Gene: SMC3

Linked Data

• dbSNP Id: rs1297947779
• gnomAD v2: 10-112361265-ATT-A
• gnomAD v3: 10-110601507-ATT-A
• gnomAD v4: 10-110601507-ATT-A
• MyVariant Identifiers: chr10:g.112361266_112361267del (hg19) ; chr10:g.110601508_110601509del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.110601510_110601511del , CM000672.2:g.110601510_110601511del	GRCh38
NC_000010.10:g.112361268_112361269del , CM000672.1:g.112361268_112361269del	GRCh37
NC_000010.9:g.112351258_112351259del	NCBI36
NG_012217.1:g.38820_38821del , LRG_774:g.38820_38821del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684988.1:n.4878-127_4878-126del
ENST00000685743.1:n.2226_2227del
ENST00000686057.1:n.996-127_996-126del
ENST00000689321.1:n.1608-127_1608-126del
ENST00000689986.1:n.434-127_434-126del
ENST00000361804.5:c.2645-127_2645-126del MANE Select	ENSP00000354720.5:n.2645-127_2645-126del
ENST00000361804.4:c.2645-127_2645-126del	ENSP00000354720.4:n.2645-127_2645-126del
NM_005445.3:c.2645-127_2645-126del , LRG_774t1:c.2645-127_2645-126del	NP_005436.1:n.2645-127_2645-126del
NM_005445.4:c.2645-127_2645-126del MANE Select	NP_005436.1:n.2645-127_2645-126del