Canonical Allele Identifier: CA2820953188

Gene: SMC1A

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.53378188_53378189del , CM000685.2:g.53378188_53378189del	GRCh38
NC_000023.10:g.53405109_53405110del , CM000685.1:g.53405109_53405110del	GRCh37
NC_000023.9:g.53421834_53421835del	NCBI36
NG_006988.2:g.49483_49484del , LRG_773:g.49483_49484del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000322213.9:c.*1915_*1916del MANE Select	ENSP00000323421.3:n.*1915_*1916del
ENST00000675504.1:c.*1915_*1916del	ENSP00000502524.1:n.*1915_*1916del
ENST00000322213.8:c.*1915_*1916del	ENSP00000323421.3:n.*1915_*1916del
ENST00000375340.10:c.*1915_*1916del	ENSP00000364489.7:n.*1915_*1916del
NM_001281463.1:c.*1915_*1916del , LRG_773t1:c.*1915_*1916del	NP_001268392.1:n.*1915_*1916del
NM_006306.3:c.*1915_*1916del , LRG_773t2:c.*1915_*1916del	NP_006297.2:n.*1915_*1916del
NM_006306.4:c.*1915_*1916del MANE Select	NP_006297.2:n.*1915_*1916del