Canonical Allele Identifier: CA2429816194

Gene: SMC1A

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.53378301_53378303delinsAAC , CM000685.2:g.53378301_53378303delinsAAC	GRCh38
NC_000023.10:g.53405222_53405224delinsAAC , CM000685.1:g.53405222_53405224delinsAAC	GRCh37
NC_000023.9:g.53421947_53421949delinsAAC	NCBI36
NG_006988.2:g.49368_49370delinsGTT , LRG_773:g.49368_49370delinsGTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000322213.9:c.*1800_*1802delinsGTT MANE Select	ENSP00000323421.3:n.*1800_*1802delinsGTT
ENST00000675504.1:c.*1800_*1802delinsGTT	ENSP00000502524.1:n.*1800_*1802delinsGTT
ENST00000322213.8:c.*1800_*1802delinsGTT	ENSP00000323421.3:n.*1800_*1802delinsGTT
ENST00000375340.10:c.*1800_*1802delinsGTT	ENSP00000364489.7:n.*1800_*1802delinsGTT
NM_001281463.1:c.*1800_*1802delinsGTT , LRG_773t1:c.*1800_*1802delinsGTT	NP_001268392.1:n.*1800_*1802delinsGTT
NM_006306.3:c.*1800_*1802delinsGTT , LRG_773t2:c.*1800_*1802delinsGTT	NP_006297.2:n.*1800_*1802delinsGTT
NM_006306.4:c.*1800_*1802delinsGTT MANE Select	NP_006297.2:n.*1800_*1802delinsGTT