Canonical Allele Identifier: CA2555881065

Gene: SMC1A

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.53405182_53405184dup , CM000685.2:g.53405182_53405184dup	GRCh38
NC_000023.10:g.53432114_53432116dup , CM000685.1:g.53432114_53432116dup	GRCh37
NC_000023.9:g.53448839_53448841dup	NCBI36
NG_006988.2:g.22487_22489dup , LRG_773:g.22487_22489dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000322213.9:c.2059-35_2059-33dup MANE Select	ENSP00000323421.3:n.2059-35_2059-33dup
ENST00000674590.1:c.1291-35_1291-33dup	ENSP00000502626.1:n.1291-35_1291-33dup
ENST00000675065.1:n.1411-35_1411-33dup
ENST00000675504.1:c.1993-35_1993-33dup	ENSP00000502524.1:n.1993-35_1993-33dup
ENST00000322213.8:c.2059-35_2059-33dup	ENSP00000323421.3:n.2059-35_2059-33dup
ENST00000375340.10:c.1993-35_1993-33dup	ENSP00000364489.7:n.1993-35_1993-33dup
NM_001281463.1:c.1993-35_1993-33dup , LRG_773t1:c.1993-35_1993-33dup	NP_001268392.1:n.1993-35_1993-33dup
NM_006306.3:c.2059-35_2059-33dup , LRG_773t2:c.2059-35_2059-33dup	NP_006297.2:n.2059-35_2059-33dup
NM_006306.4:c.2059-35_2059-33dup MANE Select	NP_006297.2:n.2059-35_2059-33dup