Canonical Allele Identifier: CA2533587824
Gene: MLC1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2676562
ClinVar RCV Id: RCV003476493

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.50084729del , CM000684.2:g.50084729del GRCh38
NC_000022.10:g.50523158del , CM000684.1:g.50523158del GRCh37
NC_000022.9:g.48865285del NCBI36
NG_009162.1:g.6205del

Transcript Alleles

HGVS Amino-acid change
ENST00000311597.10:c.177+1del
ENST00000311597.9:c.177+1del
ENST00000395876.6:c.177+1del
ENST00000442311.1:c.177+1del
NM_015166.3:c.177+1del
NM_139202.2:c.177+1del
XM_011530678.1:c.177+1del
XR_430476.2:n.572+1del
XM_011530678.2:c.177+1del
XM_017028671.1:c.177+1del
XR_001755180.2:n.682+1del
XR_001755181.2:n.450+1del
NM_001376472.1:c.177+1del
NM_001376473.1:c.177+1del
NM_001376474.1:c.177+1del
NM_001376475.1:c.177+1del
NM_001376476.1:c.177+1del
NM_001376477.1:c.177+1del
NM_001376478.1:c.177+1del
NM_001376479.1:c.177+1del
NM_001376480.1:c.177+1del
NM_001376481.1:c.177+1del
NM_001376482.1:c.177+1del
NM_001376483.1:c.177+1del
NM_001376484.1:c.-59+630del NP_001363413.1:n.-59+630del
NM_015166.4:c.177+1del
NM_139202.3:c.177+1del
NR_164811.1:n.524+1del
NR_164812.1:n.308+1del
NR_164813.1:n.701+1del