Canonical Allele Identifier: CA2610887821

Gene: SMC3

Linked Data

• gnomAD v4: 10-110573778-A-AAG

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.110573780_110573781dup , CM000672.2:g.110573780_110573781dup	GRCh38
NC_000010.10:g.112333538_112333539dup , CM000672.1:g.112333538_112333539dup	GRCh37
NC_000010.9:g.112323528_112323529dup	NCBI36
NG_012217.1:g.11090_11091dup , LRG_774:g.11090_11091dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684988.1:n.263+35_263+36dup
ENST00000687823.1:n.45-1556_45-1555dup
ENST00000689932.1:n.638_639dup
ENST00000691297.1:n.263+35_263+36dup
ENST00000691527.1:n.220+35_220+36dup
ENST00000692792.1:n.249+35_249+36dup
ENST00000361804.5:c.130+35_130+36dup MANE Select	ENSP00000354720.5:n.130+35_130+36dup
ENST00000361804.4:c.130+35_130+36dup	ENSP00000354720.4:n.130+35_130+36dup
ENST00000462899.1:n.276+35_276+36dup
NM_005445.3:c.130+35_130+36dup , LRG_774t1:c.130+35_130+36dup	NP_005436.1:n.130+35_130+36dup
NM_005445.4:c.130+35_130+36dup MANE Select	NP_005436.1:n.130+35_130+36dup