Canonical Allele Identifier: CA2820947349

Gene: SMC1A

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.53409013_53409014del , CM000685.2:g.53409013_53409014del	GRCh38
NC_000023.10:g.53435944_53435945del , CM000685.1:g.53435944_53435945del	GRCh37
NC_000023.9:g.53452669_53452670del	NCBI36
NG_006988.2:g.18660_18661del , LRG_773:g.18660_18661del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000322213.9:c.1545+51_1545+52del MANE Select	ENSP00000323421.3:n.1545+51_1545+52del
ENST00000674590.1:c.777+51_777+52del	ENSP00000502626.1:n.777+51_777+52del
ENST00000675065.1:n.897+51_897+52del
ENST00000675504.1:c.1479+51_1479+52del	ENSP00000502524.1:n.1479+51_1479+52del
ENST00000322213.8:c.1545+51_1545+52del	ENSP00000323421.3:n.1545+51_1545+52del
ENST00000375340.10:c.1479+51_1479+52del	ENSP00000364489.7:n.1479+51_1479+52del
NM_001281463.1:c.1479+51_1479+52del , LRG_773t1:c.1479+51_1479+52del	NP_001268392.1:n.1479+51_1479+52del
NM_006306.3:c.1545+51_1545+52del , LRG_773t2:c.1545+51_1545+52del	NP_006297.2:n.1545+51_1545+52del
NM_006306.4:c.1545+51_1545+52del MANE Select	NP_006297.2:n.1545+51_1545+52del