Canonical Allele Identifier: CA16042029
Gene: MLC1 HGNC NCBI

Linked Data

ClinVar Variation Id: 370234
ClinVar RCV Id: RCV000409108
dbSNP Id: rs1057516336

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.50080393_50080394del , CM000684.2:g.50080393_50080394del GRCh38
NC_000022.10:g.50518822_50518823del , CM000684.1:g.50518822_50518823del GRCh37
NC_000022.9:g.48860949_48860950del NCBI36
NG_009162.1:g.10536_10537del

Transcript Alleles

HGVS Amino-acid change
ENST00000311597.10:c.271_272del MANE Select ENSP00000310375.6:p.Ile91ProfsTer?
ENST00000311597.9:c.271_272del ENSP00000310375.5:p.Ile91ProfsTer?
ENST00000395876.6:c.271_272del ENSP00000379216.2:p.Ile91ProfsTer?
ENST00000442311.1:c.181_182del ENSP00000401385.1:p.Ile61ProfsTer?
NM_015166.3:c.271_272del NP_055981.1:p.Ile91ProfsTer?
NM_139202.2:c.271_272del NP_631941.1:p.Ile91ProfsTer?
XM_011530678.1:c.271_272del XP_011528980.1:p.Ile91ProfsTer?
XR_430476.2:n.666_667del
XM_011530678.2:c.271_272del XP_011528980.1:p.Ile91ProfsTer?
XM_017028671.1:c.271_272del XP_016884160.1:p.Ile91ProfsTer?
XR_001755180.2:n.776_777del
XR_001755181.2:n.544_545del
NM_001376472.1:c.271_272del NP_001363401.1:p.Ile91ProfsTer?
NM_001376473.1:c.271_272del NP_001363402.1:p.Ile91ProfsTer?
NM_001376474.1:c.271_272del NP_001363403.1:p.Ile91ProfsTer?
NM_001376475.1:c.271_272del NP_001363404.1:p.Ile91ProfsTer?
NM_001376476.1:c.271_272del NP_001363405.1:p.Ile91ProfsTer?
NM_001376477.1:c.271_272del NP_001363406.1:p.Ile91ProfsTer?
NM_001376478.1:c.271_272del NP_001363407.1:p.Ile91ProfsTer?
NM_001376479.1:c.271_272del NP_001363408.1:p.Ile91ProfsTer?
NM_001376480.1:c.181_182del NP_001363409.1:p.Ile61ProfsTer?
NM_001376481.1:c.271_272del NP_001363410.1:p.Ile91ProfsTer?
NM_001376482.1:c.267+2690_267+2691del NP_001363411.1:n.267+2690_267+2691del
NM_001376483.1:c.267+2690_267+2691del NP_001363412.1:n.267+2690_267+2691del
NM_001376484.1:c.34_35del NP_001363413.1:p.Ile12ProfsTer?
NM_015166.4:c.271_272del MANE Select NP_055981.1:p.Ile91ProfsTer?
NM_139202.3:c.271_272del NP_631941.1:p.Ile91ProfsTer?
NR_164811.1:n.618_619del
NR_164812.1:n.402_403del
NR_164813.1:n.795_796del