Canonical Allele Identifier: CA2429825253

Gene: SMC1A

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.53405312_53405313delinsCG , CM000685.2:g.53405312_53405313delinsCG	GRCh38
NC_000023.10:g.53432244_53432245delinsCG , CM000685.1:g.53432244_53432245delinsCG	GRCh37
NC_000023.9:g.53448969_53448970delinsCG	NCBI36
NG_006988.2:g.22358_22359delinsCG , LRG_773:g.22358_22359delinsCG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000322213.9:c.1990_1991delinsCG MANE Select	ENSP00000323421.3:p.Arg664=
ENST00000674590.1:c.1222_1223delinsCG	ENSP00000502626.1:p.Arg408=
ENST00000675065.1:n.1342_1343delinsCG
ENST00000675504.1:c.1924_1925delinsCG	ENSP00000502524.1:p.Arg642=
ENST00000322213.8:c.1990_1991delinsCG	ENSP00000323421.3:p.Arg664=
ENST00000375340.10:c.1924_1925delinsCG	ENSP00000364489.7:p.Arg642=
NM_001281463.1:c.1924_1925delinsCG , LRG_773t1:c.1924_1925delinsCG	NP_001268392.1:p.Arg642=
NM_006306.3:c.1990_1991delinsCG , LRG_773t2:c.1990_1991delinsCG	NP_006297.2:p.Arg664=
NM_006306.4:c.1990_1991delinsCG MANE Select	NP_006297.2:p.Arg664=