Canonical Allele Identifier: CA2429826648

Gene: SMC1A

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.53409280_53409281delinsAG , CM000685.2:g.53409280_53409281delinsAG	GRCh38
NC_000023.10:g.53436211_53436212delinsAG , CM000685.1:g.53436211_53436212delinsAG	GRCh37
NC_000023.9:g.53452936_53452937delinsAG	NCBI36
NG_006988.2:g.18390_18391delinsCT , LRG_773:g.18390_18391delinsCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000322213.9:c.1338-12_1338-11delinsCT MANE Select	ENSP00000323421.3:n.1338-12_1338-11delinsCT
ENST00000674590.1:c.570-12_570-11delinsCT	ENSP00000502626.1:n.570-12_570-11delinsCT
ENST00000675065.1:n.690-12_690-11delinsCT
ENST00000675504.1:c.1272-12_1272-11delinsCT	ENSP00000502524.1:n.1272-12_1272-11delinsCT
ENST00000322213.8:c.1338-12_1338-11delinsCT	ENSP00000323421.3:n.1338-12_1338-11delinsCT
ENST00000375340.10:c.1272-12_1272-11delinsCT	ENSP00000364489.7:n.1272-12_1272-11delinsCT
NM_001281463.1:c.1272-12_1272-11delinsCT , LRG_773t1:c.1272-12_1272-11delinsCT	NP_001268392.1:n.1272-12_1272-11delinsCT
NM_006306.3:c.1338-12_1338-11delinsCT , LRG_773t2:c.1338-12_1338-11delinsCT	NP_006297.2:n.1338-12_1338-11delinsCT
NM_006306.4:c.1338-12_1338-11delinsCT MANE Select	NP_006297.2:n.1338-12_1338-11delinsCT