Canonical Allele Identifier: CA2837994540
Gene: SMC3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.110602075_110602077del , CM000672.2:g.110602075_110602077del GRCh38
NC_000010.10:g.112361833_112361835del , CM000672.1:g.112361833_112361835del GRCh37
NC_000010.9:g.112351823_112351825del NCBI36
NG_012217.1:g.39385_39387del , LRG_774:g.39385_39387del

Transcript Alleles

HGVS Amino-acid Change
ENST00000684988.1:n.5235_5237del
ENST00000685743.1:n.2710_2712del
ENST00000686057.1:n.1353_1355del
ENST00000689321.1:n.1965_1967del
ENST00000689986.1:n.791_793del
ENST00000361804.5:c.3002_3004del MANE Select ENSP00000354720.5:p.Ile1001del
ENST00000361804.4:c.3002_3004del ENSP00000354720.4:p.Ile1001del
NM_005445.3:c.3002_3004del , LRG_774t1:c.3002_3004del NP_005436.1:p.Ile1001del
NM_005445.4:c.3002_3004del MANE Select NP_005436.1:p.Ile1001del