Canonical Allele Identifier: CA2579615792
Gene: SMC1A HGNC NCBI
MIR6857 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.53405681del , CM000685.2:g.53405681del GRCh38
NC_000023.10:g.53432613del , CM000685.1:g.53432613del GRCh37
NC_000023.9:g.53449338del NCBI36
NG_006988.2:g.21990del , LRG_773:g.21990del

Transcript Alleles

HGVS Amino-acid Change
ENST00000322213.9:c.1732-9del (SMC1A) MANE Select ENSP00000323421.3:n.1732-9del
ENST00000674590.1:c.964-9del (SMC1A) ENSP00000502626.1:n.964-9del
ENST00000675065.1:n.1084-9del (SMC1A)
ENST00000675504.1:c.1666-9del (SMC1A) ENSP00000502524.1:n.1666-9del
ENST00000322213.8:c.1732-9del (SMC1A) ENSP00000323421.3:n.1732-9del
ENST00000375340.10:c.1666-9del (SMC1A) ENSP00000364489.7:n.1666-9del
NM_001281463.1:c.1666-9del , LRG_773t1:c.1666-9del (SMC1A) NP_001268392.1:n.1666-9del
NM_006306.3:c.1732-9del , LRG_773t2:c.1732-9del (SMC1A) NP_006297.2:n.1732-9del
NR_106916.1:n.85del (MIR6857)
NM_006306.4:c.1732-9del (SMC1A) MANE Select NP_006297.2:n.1732-9del