Canonical Allele Identifier: CA16042028
Gene: MLC1 HGNC NCBI

Linked Data

ClinVar Variation Id: 371207
dbSNP Id: rs1057517090

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.50077471_50077477del , CM000684.2:g.50077471_50077477del GRCh38
NC_000022.10:g.50515900_50515906del , CM000684.1:g.50515900_50515906del GRCh37
NC_000022.9:g.48858027_48858033del NCBI36
NG_009162.1:g.13453_13459del

Transcript Alleles

HGVS Amino-acid change
ENST00000311597.10:c.449_455del MANE Select ENSP00000310375.6:p.Leu150ArgfsTer9
ENST00000311597.9:c.449_455del ENSP00000310375.5:p.Leu150ArgfsTer9
ENST00000395876.6:c.449_455del ENSP00000379216.2:p.Leu150ArgfsTer9
ENST00000442311.1:c.359_365del ENSP00000401385.1:p.Leu120ArgfsTer9
NM_015166.3:c.449_455del NP_055981.1:p.Leu150ArgfsTer9
NM_139202.2:c.449_455del NP_631941.1:p.Leu150ArgfsTer9
XM_011530678.1:c.449_455del XP_011528980.1:p.Leu150ArgfsTer9
XR_430476.2:n.844_850del
XM_011530678.2:c.449_455del XP_011528980.1:p.Leu150ArgfsTer9
XM_017028671.1:c.449_455del XP_016884160.1:p.Leu150ArgfsTer9
XR_001755180.2:n.954_960del
XR_001755181.2:n.722_728del
NM_001376472.1:c.449_455del NP_001363401.1:p.Leu150ArgfsTer9
NM_001376473.1:c.449_455del NP_001363402.1:p.Leu150ArgfsTer9
NM_001376474.1:c.449_455del NP_001363403.1:p.Leu150ArgfsTer9
NM_001376475.1:c.449_455del NP_001363404.1:p.Leu150ArgfsTer9
NM_001376476.1:c.449_455del NP_001363405.1:p.Leu150ArgfsTer9
NM_001376477.1:c.449_455del NP_001363406.1:p.Leu150ArgfsTer9
NM_001376478.1:c.449_455del NP_001363407.1:p.Leu150ArgfsTer9
NM_001376479.1:c.449_455del NP_001363408.1:p.Leu150ArgfsTer9
NM_001376480.1:c.359_365del NP_001363409.1:p.Leu120ArgfsTer9
NM_001376481.1:c.347_353del NP_001363410.1:p.Leu116ArgfsTer9
NM_001376482.1:c.293_299del NP_001363411.1:p.Leu98ArgfsTer9
NM_001376483.1:c.293_299del NP_001363412.1:p.Leu98ArgfsTer9
NM_001376484.1:c.212_218del NP_001363413.1:p.Leu71ArgfsTer9
NM_015166.4:c.449_455del MANE Select NP_055981.1:p.Leu150ArgfsTer9
NM_139202.3:c.449_455del NP_631941.1:p.Leu150ArgfsTer9
NR_164811.1:n.796_802del
NR_164812.1:n.580_586del
NR_164813.1:n.973_979del