Canonical Allele Identifier: CA2820946814

Gene: SMC1A

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.53405338_53405340dup , CM000685.2:g.53405338_53405340dup	GRCh38
NC_000023.10:g.53432270_53432272dup , CM000685.1:g.53432270_53432272dup	GRCh37
NC_000023.9:g.53448995_53448997dup	NCBI36
NG_006988.2:g.22332_22334dup , LRG_773:g.22332_22334dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000322213.9:c.1964_1966dup MANE Select	ENSP00000323421.3:p.Gly655_Ala656insGly
ENST00000674590.1:c.1196_1198dup	ENSP00000502626.1:p.Gly399_Ala400insGly
ENST00000675065.1:n.1316_1318dup
ENST00000675504.1:c.1898_1900dup	ENSP00000502524.1:p.Gly633_Ala634insGly
ENST00000322213.8:c.1964_1966dup	ENSP00000323421.3:p.Gly655_Ala656insGly
ENST00000375340.10:c.1898_1900dup	ENSP00000364489.7:p.Gly633_Ala634insGly
NM_001281463.1:c.1898_1900dup , LRG_773t1:c.1898_1900dup	NP_001268392.1:p.Gly633_Ala634insGly
NM_006306.3:c.1964_1966dup , LRG_773t2:c.1964_1966dup	NP_006297.2:p.Gly655_Ala656insGly
NM_006306.4:c.1964_1966dup MANE Select	NP_006297.2:p.Gly655_Ala656insGly