Canonical Allele Identifier: CA16042027
Gene: MLC1 HGNC NCBI

Linked Data

ClinVar Variation Id: 371571
ClinVar RCV Id: RCV000410276
dbSNP Id: rs1057517375

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.50074305_50074306del , CM000684.2:g.50074305_50074306del GRCh38
NC_000022.10:g.50512734_50512735del , CM000684.1:g.50512734_50512735del GRCh37
NC_000022.9:g.48854861_48854862del NCBI36
NG_009162.1:g.16624_16625del

Transcript Alleles

HGVS Amino-acid change
ENST00000311597.10:c.624_625del MANE Select ENSP00000310375.6:p.Ala209ArgfsTer12
ENST00000311597.9:c.624_625del ENSP00000310375.5:p.Ala209ArgfsTer12
ENST00000395876.6:c.624_625del ENSP00000379216.2:p.Ala209ArgfsTer12
ENST00000442311.1:c.534_535del ENSP00000401385.1:p.Ala179ArgfsTer12
ENST00000470008.1:n.104_105del
NM_015166.3:c.624_625del NP_055981.1:p.Ala209ArgfsTer12
NM_139202.2:c.624_625del NP_631941.1:p.Ala209ArgfsTer12
XM_011530678.1:c.624_625del XP_011528980.1:p.Ala209ArgfsTer12
XR_430476.2:n.1019_1020del
XM_011530678.2:c.624_625del XP_011528980.1:p.Ala209ArgfsTer12
XM_017028671.1:c.624_625del XP_016884160.1:p.Ala209ArgfsTer12
XR_001755180.2:n.1129_1130del
XR_001755181.2:n.897_898del
NM_001376472.1:c.624_625del NP_001363401.1:p.Ala209ArgfsTer12
NM_001376473.1:c.624_625del NP_001363402.1:p.Ala209ArgfsTer12
NM_001376474.1:c.624_625del NP_001363403.1:p.Ala209ArgfsTer12
NM_001376475.1:c.624_625del NP_001363404.1:p.Ala209ArgfsTer12
NM_001376476.1:c.624_625del NP_001363405.1:p.Ala209ArgfsTer12
NM_001376477.1:c.624_625del NP_001363406.1:p.Ala209ArgfsTer12
NM_001376478.1:c.624_625del NP_001363407.1:p.Ala209ArgfsTer12
NM_001376479.1:c.624_625del NP_001363408.1:p.Ala209ArgfsTer12
NM_001376480.1:c.534_535del NP_001363409.1:p.Ala179ArgfsTer12
NM_001376481.1:c.522_523del NP_001363410.1:p.Ala175ArgfsTer12
NM_001376482.1:c.468_469del NP_001363411.1:p.Ala157ArgfsTer12
NM_001376483.1:c.468_469del NP_001363412.1:p.Ala157ArgfsTer12
NM_001376484.1:c.387_388del NP_001363413.1:p.Ala130ArgfsTer12
NM_015166.4:c.624_625del MANE Select NP_055981.1:p.Ala209ArgfsTer12
NM_139202.3:c.624_625del NP_631941.1:p.Ala209ArgfsTer12
NR_164811.1:n.971_972del
NR_164812.1:n.755_756del
NR_164813.1:n.1148_1149del