Canonical Allele Identifier: CA2429817379

Gene: SMC1A

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.53382149_53382151delinsATC , CM000685.2:g.53382149_53382151delinsATC	GRCh38
NC_000023.10:g.53409070_53409072delinsATC , CM000685.1:g.53409070_53409072delinsATC	GRCh37
NC_000023.9:g.53425795_53425797delinsATC	NCBI36
NG_006988.2:g.45520_45522delinsGAT , LRG_773:g.45520_45522delinsGAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000322213.9:c.3437+81_3437+83delinsGAT MANE Select	ENSP00000323421.3:n.3437+81_3437+83delinsGAT
ENST00000674590.1:c.2669+81_2669+83delinsGAT	ENSP00000502626.1:n.2669+81_2669+83delinsGAT
ENST00000675504.1:c.3371+81_3371+83delinsGAT	ENSP00000502524.1:n.3371+81_3371+83delinsGAT
ENST00000322213.8:c.3437+81_3437+83delinsGAT	ENSP00000323421.3:n.3437+81_3437+83delinsGAT
ENST00000375340.10:c.3371+81_3371+83delinsGAT	ENSP00000364489.7:n.3371+81_3371+83delinsGAT
ENST00000469129.1:n.374_376delinsGAT
ENST00000470241.2:c.727+81_727+83delinsGAT
NM_001281463.1:c.3371+81_3371+83delinsGAT , LRG_773t1:c.3371+81_3371+83delinsGAT	NP_001268392.1:n.3371+81_3371+83delinsGAT
NM_006306.3:c.3437+81_3437+83delinsGAT , LRG_773t2:c.3437+81_3437+83delinsGAT	NP_006297.2:n.3437+81_3437+83delinsGAT
NM_006306.4:c.3437+81_3437+83delinsGAT MANE Select	NP_006297.2:n.3437+81_3437+83delinsGAT