Canonical Allele Identifier: CA2579615571

Gene: SMC1A

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.53382183del , CM000685.2:g.53382183del	GRCh38
NC_000023.10:g.53409104del , CM000685.1:g.53409104del	GRCh37
NC_000023.9:g.53425829del	NCBI36
NG_006988.2:g.45488del , LRG_773:g.45488del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000322213.9:c.3437+49del MANE Select	ENSP00000323421.3:n.3437+49del
ENST00000674590.1:c.2669+49del	ENSP00000502626.1:n.2669+49del
ENST00000675504.1:c.3371+49del	ENSP00000502524.1:n.3371+49del
ENST00000322213.8:c.3437+49del	ENSP00000323421.3:n.3437+49del
ENST00000375340.10:c.3371+49del	ENSP00000364489.7:n.3371+49del
ENST00000469129.1:n.342del
ENST00000470241.2:c.727+49del
NM_001281463.1:c.3371+49del , LRG_773t1:c.3371+49del	NP_001268392.1:n.3371+49del
NM_006306.3:c.3437+49del , LRG_773t2:c.3437+49del	NP_006297.2:n.3437+49del
NM_006306.4:c.3437+49del MANE Select	NP_006297.2:n.3437+49del