Canonical Allele Identifier: CA2555697290

Gene: SMC1A MIR6857

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.53405693_53405694insCTTAA , CM000685.2:g.53405693_53405694insCTTAA	GRCh38
NC_000023.10:g.53432625_53432626insCTTAA , CM000685.1:g.53432625_53432626insCTTAA	GRCh37
NC_000023.9:g.53449350_53449351insCTTAA	NCBI36
NG_006988.2:g.21978_21979insTAAGT , LRG_773:g.21978_21979insTAAGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000322213.9:c.1732-21_1732-20insTAAGT (SMC1A) MANE Select	ENSP00000323421.3:n.1732-21_1732-20insTAAGT
ENST00000674590.1:c.964-21_964-20insTAAGT (SMC1A)	ENSP00000502626.1:n.964-21_964-20insTAAGT
ENST00000675065.1:n.1084-21_1084-20insTAAGT (SMC1A)
ENST00000675504.1:c.1666-21_1666-20insTAAGT (SMC1A)	ENSP00000502524.1:n.1666-21_1666-20insTAAGT
ENST00000322213.8:c.1732-21_1732-20insTAAGT (SMC1A)	ENSP00000323421.3:n.1732-21_1732-20insTAAGT
ENST00000375340.10:c.1666-21_1666-20insTAAGT (SMC1A)	ENSP00000364489.7:n.1666-21_1666-20insTAAGT
NM_001281463.1:c.1666-21_1666-20insTAAGT , LRG_773t1:c.1666-21_1666-20insTAAGT (SMC1A)	NP_001268392.1:n.1666-21_1666-20insTAAGT
NM_006306.3:c.1732-21_1732-20insTAAGT , LRG_773t2:c.1732-21_1732-20insTAAGT (SMC1A)	NP_006297.2:n.1732-21_1732-20insTAAGT
NR_106916.1:n.73_74insTAAGT (MIR6857)
NM_006306.4:c.1732-21_1732-20insTAAGT (SMC1A) MANE Select	NP_006297.2:n.1732-21_1732-20insTAAGT