Canonical Allele Identifier: CA645568294
Gene: SMC3 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.110601803_110601805del , CM000672.2:g.110601803_110601805del GRCh38
NC_000010.10:g.112361561_112361563del , CM000672.1:g.112361561_112361563del GRCh37
NC_000010.9:g.112351551_112351553del NCBI36
NG_012217.1:g.39113_39115del , LRG_774:g.39113_39115del

Transcript Alleles

HGVS Amino-acid Change
ENST00000684988.1:n.5044_5046del
ENST00000685743.1:n.2519_2521del
ENST00000686057.1:n.1162_1164del
ENST00000689321.1:n.1774_1776del
ENST00000689986.1:n.600_602del
ENST00000361804.5:c.2811_2813del MANE Select ENSP00000354720.5:p.Glu938del
ENST00000361804.4:c.2811_2813del ENSP00000354720.4:p.Glu938del
NM_005445.3:c.2811_2813del , LRG_774t1:c.2811_2813del NP_005436.1:p.Glu938del
NM_005445.4:c.2811_2813del MANE Select NP_005436.1:p.Glu938del