Canonical Allele Identifier: CA2560073095

Gene: SMC1A MIR6857

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.53405687_53405688del , CM000685.2:g.53405687_53405688del	GRCh38
NC_000023.10:g.53432619_53432620del , CM000685.1:g.53432619_53432620del	GRCh37
NC_000023.9:g.53449344_53449345del	NCBI36
NG_006988.2:g.21984_21985del , LRG_773:g.21984_21985del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000322213.9:c.1732-15_1732-14del (SMC1A) MANE Select	ENSP00000323421.3:n.1732-15_1732-14del
ENST00000674590.1:c.964-15_964-14del (SMC1A)	ENSP00000502626.1:n.964-15_964-14del
ENST00000675065.1:n.1084-15_1084-14del (SMC1A)
ENST00000675504.1:c.1666-15_1666-14del (SMC1A)	ENSP00000502524.1:n.1666-15_1666-14del
ENST00000322213.8:c.1732-15_1732-14del (SMC1A)	ENSP00000323421.3:n.1732-15_1732-14del
ENST00000375340.10:c.1666-15_1666-14del (SMC1A)	ENSP00000364489.7:n.1666-15_1666-14del
NM_001281463.1:c.1666-15_1666-14del , LRG_773t1:c.1666-15_1666-14del (SMC1A)	NP_001268392.1:n.1666-15_1666-14del
NM_006306.3:c.1732-15_1732-14del , LRG_773t2:c.1732-15_1732-14del (SMC1A)	NP_006297.2:n.1732-15_1732-14del
NR_106916.1:n.79_80del (MIR6857)
NM_006306.4:c.1732-15_1732-14del (SMC1A) MANE Select	NP_006297.2:n.1732-15_1732-14del