Canonical Allele Identifier: CA2429816979

Gene: SMC1A

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.53380773_53380775delinsAAC , CM000685.2:g.53380773_53380775delinsAAC	GRCh38
NC_000023.10:g.53407694_53407696delinsAAC , CM000685.1:g.53407694_53407696delinsAAC	GRCh37
NC_000023.9:g.53424419_53424421delinsAAC	NCBI36
NG_006988.2:g.46896_46898delinsGTT , LRG_773:g.46896_46898delinsGTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000322213.9:c.3508-45_3508-43delinsGTT MANE Select	ENSP00000323421.3:n.3508-45_3508-43delinsGTT
ENST00000674590.1:c.2740-45_2740-43delinsGTT	ENSP00000502626.1:n.2740-45_2740-43delinsGTT
ENST00000675504.1:c.3442-45_3442-43delinsGTT	ENSP00000502524.1:n.3442-45_3442-43delinsGTT
ENST00000322213.8:c.3508-45_3508-43delinsGTT	ENSP00000323421.3:n.3508-45_3508-43delinsGTT
ENST00000375340.10:c.3442-45_3442-43delinsGTT	ENSP00000364489.7:n.3442-45_3442-43delinsGTT
ENST00000470241.2:c.728-45_728-43delinsGTT
NM_001281463.1:c.3442-45_3442-43delinsGTT , LRG_773t1:c.3442-45_3442-43delinsGTT	NP_001268392.1:n.3442-45_3442-43delinsGTT
NM_006306.3:c.3508-45_3508-43delinsGTT , LRG_773t2:c.3508-45_3508-43delinsGTT	NP_006297.2:n.3508-45_3508-43delinsGTT
NM_006306.4:c.3508-45_3508-43delinsGTT MANE Select	NP_006297.2:n.3508-45_3508-43delinsGTT