Canonical Allele Identifier: CA2429825236

Gene: SMC1A

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.53405254_53405257delinsCTCT , CM000685.2:g.53405254_53405257delinsCTCT	GRCh38
NC_000023.10:g.53432186_53432189delinsCTCT , CM000685.1:g.53432186_53432189delinsCTCT	GRCh37
NC_000023.9:g.53448911_53448914delinsCTCT	NCBI36
NG_006988.2:g.22414_22417delinsAGAG , LRG_773:g.22414_22417delinsAGAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000322213.9:c.2046_2049delinsAGAG MANE Select	ENSP00000323421.3:p.Thr682=
ENST00000674590.1:c.1278_1281delinsAGAG	ENSP00000502626.1:p.Thr426=
ENST00000675065.1:n.1398_1401delinsAGAG
ENST00000675504.1:c.1980_1983delinsAGAG	ENSP00000502524.1:p.Thr660=
ENST00000322213.8:c.2046_2049delinsAGAG	ENSP00000323421.3:p.Thr682=
ENST00000375340.10:c.1980_1983delinsAGAG	ENSP00000364489.7:p.Thr660=
NM_001281463.1:c.1980_1983delinsAGAG , LRG_773t1:c.1980_1983delinsAGAG	NP_001268392.1:p.Thr660=
NM_006306.3:c.2046_2049delinsAGAG , LRG_773t2:c.2046_2049delinsAGAG	NP_006297.2:p.Thr682=
NM_006306.4:c.2046_2049delinsAGAG MANE Select	NP_006297.2:p.Thr682=