Canonical Allele Identifier: CA2429825211

Gene: SMC1A

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.53405180_53405181delinsGT , CM000685.2:g.53405180_53405181delinsGT	GRCh38
NC_000023.10:g.53432112_53432113delinsGT , CM000685.1:g.53432112_53432113delinsGT	GRCh37
NC_000023.9:g.53448837_53448838delinsGT	NCBI36
NG_006988.2:g.22490_22491delinsAC , LRG_773:g.22490_22491delinsAC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000322213.9:c.2059-32_2059-31delinsAC MANE Select	ENSP00000323421.3:n.2059-32_2059-31delinsAC
ENST00000674590.1:c.1291-32_1291-31delinsAC	ENSP00000502626.1:n.1291-32_1291-31delinsAC
ENST00000675065.1:n.1411-32_1411-31delinsAC
ENST00000675504.1:c.1993-32_1993-31delinsAC	ENSP00000502524.1:n.1993-32_1993-31delinsAC
ENST00000322213.8:c.2059-32_2059-31delinsAC	ENSP00000323421.3:n.2059-32_2059-31delinsAC
ENST00000375340.10:c.1993-32_1993-31delinsAC	ENSP00000364489.7:n.1993-32_1993-31delinsAC
NM_001281463.1:c.1993-32_1993-31delinsAC , LRG_773t1:c.1993-32_1993-31delinsAC	NP_001268392.1:n.1993-32_1993-31delinsAC
NM_006306.3:c.2059-32_2059-31delinsAC , LRG_773t2:c.2059-32_2059-31delinsAC	NP_006297.2:n.2059-32_2059-31delinsAC
NM_006306.4:c.2059-32_2059-31delinsAC MANE Select	NP_006297.2:n.2059-32_2059-31delinsAC