Canonical Allele Identifier: CA2429817423

Gene: SMC1A

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.53382386_53382387delinsAG , CM000685.2:g.53382386_53382387delinsAG	GRCh38
NC_000023.10:g.53409307_53409308delinsAG , CM000685.1:g.53409307_53409308delinsAG	GRCh37
NC_000023.9:g.53426032_53426033delinsAG	NCBI36
NG_006988.2:g.45284_45285delinsCT , LRG_773:g.45284_45285delinsCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000322213.9:c.3286-4_3286-3delinsCT MANE Select	ENSP00000323421.3:n.3286-4_3286-3delinsCT
ENST00000674590.1:c.2518-4_2518-3delinsCT	ENSP00000502626.1:n.2518-4_2518-3delinsCT
ENST00000675504.1:c.3220-4_3220-3delinsCT	ENSP00000502524.1:n.3220-4_3220-3delinsCT
ENST00000322213.8:c.3286-4_3286-3delinsCT	ENSP00000323421.3:n.3286-4_3286-3delinsCT
ENST00000375340.10:c.3220-4_3220-3delinsCT	ENSP00000364489.7:n.3220-4_3220-3delinsCT
ENST00000469129.1:n.142-4_142-3delinsCT
ENST00000470241.2:c.576-4_576-3delinsCT
NM_001281463.1:c.3220-4_3220-3delinsCT , LRG_773t1:c.3220-4_3220-3delinsCT	NP_001268392.1:n.3220-4_3220-3delinsCT
NM_006306.3:c.3286-4_3286-3delinsCT , LRG_773t2:c.3286-4_3286-3delinsCT	NP_006297.2:n.3286-4_3286-3delinsCT
NM_006306.4:c.3286-4_3286-3delinsCT MANE Select	NP_006297.2:n.3286-4_3286-3delinsCT