Canonical Allele Identifier: CA2429816192

Gene: SMC1A

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.53378288_53378289delinsAG , CM000685.2:g.53378288_53378289delinsAG	GRCh38
NC_000023.10:g.53405209_53405210delinsAG , CM000685.1:g.53405209_53405210delinsAG	GRCh37
NC_000023.9:g.53421934_53421935delinsAG	NCBI36
NG_006988.2:g.49382_49383delinsCT , LRG_773:g.49382_49383delinsCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000322213.9:c.*1814_*1815delinsCT MANE Select	ENSP00000323421.3:n.*1814_*1815delinsCT
ENST00000675504.1:c.*1814_*1815delinsCT	ENSP00000502524.1:n.*1814_*1815delinsCT
ENST00000322213.8:c.*1814_*1815delinsCT	ENSP00000323421.3:n.*1814_*1815delinsCT
ENST00000375340.10:c.*1814_*1815delinsCT	ENSP00000364489.7:n.*1814_*1815delinsCT
NM_001281463.1:c.*1814_*1815delinsCT , LRG_773t1:c.*1814_*1815delinsCT	NP_001268392.1:n.*1814_*1815delinsCT
NM_006306.3:c.*1814_*1815delinsCT , LRG_773t2:c.*1814_*1815delinsCT	NP_006297.2:n.*1814_*1815delinsCT
NM_006306.4:c.*1814_*1815delinsCT MANE Select	NP_006297.2:n.*1814_*1815delinsCT