Canonical Allele Identifier: CA2429816974

Gene: SMC1A

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.53380760_53380761delinsAG , CM000685.2:g.53380760_53380761delinsAG	GRCh38
NC_000023.10:g.53407681_53407682delinsAG , CM000685.1:g.53407681_53407682delinsAG	GRCh37
NC_000023.9:g.53424406_53424407delinsAG	NCBI36
NG_006988.2:g.46910_46911delinsCT , LRG_773:g.46910_46911delinsCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000322213.9:c.3508-31_3508-30delinsCT MANE Select	ENSP00000323421.3:n.3508-31_3508-30delinsCT
ENST00000674590.1:c.2740-31_2740-30delinsCT	ENSP00000502626.1:n.2740-31_2740-30delinsCT
ENST00000675504.1:c.3442-31_3442-30delinsCT	ENSP00000502524.1:n.3442-31_3442-30delinsCT
ENST00000322213.8:c.3508-31_3508-30delinsCT	ENSP00000323421.3:n.3508-31_3508-30delinsCT
ENST00000375340.10:c.3442-31_3442-30delinsCT	ENSP00000364489.7:n.3442-31_3442-30delinsCT
ENST00000470241.2:c.728-31_728-30delinsCT
NM_001281463.1:c.3442-31_3442-30delinsCT , LRG_773t1:c.3442-31_3442-30delinsCT	NP_001268392.1:n.3442-31_3442-30delinsCT
NM_006306.3:c.3508-31_3508-30delinsCT , LRG_773t2:c.3508-31_3508-30delinsCT	NP_006297.2:n.3508-31_3508-30delinsCT
NM_006306.4:c.3508-31_3508-30delinsCT MANE Select	NP_006297.2:n.3508-31_3508-30delinsCT