Canonical Allele Identifier: CA2410650181
Gene: MLC1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.50068421_50068425delinsAATAC , CM000684.2:g.50068421_50068425delinsAATAC GRCh38
NC_000022.10:g.50506850_50506854delinsAATAC , CM000684.1:g.50506850_50506854delinsAATAC GRCh37
NC_000022.9:g.48848977_48848981delinsAATAC NCBI36
NG_009162.1:g.22505_22509delinsGTATT

Transcript Alleles

HGVS Amino-acid Change
ENST00000311597.10:c.894+8_894+12delinsGTATT MANE Select ENSP00000310375.6:n.894+8_894+12delinsGTATT
ENST00000311597.9:c.894+8_894+12delinsGTATT ENSP00000310375.5:n.894+8_894+12delinsGTATT
ENST00000395876.6:c.894+8_894+12delinsGTATT ENSP00000379216.2:n.894+8_894+12delinsGTATT
ENST00000483836.1:n.251+8_251+12delinsGTATT
NM_015166.3:c.894+8_894+12delinsGTATT NP_055981.1:n.894+8_894+12delinsGTATT
NM_139202.2:c.894+8_894+12delinsGTATT NP_631941.1:n.894+8_894+12delinsGTATT
XM_011530678.1:c.894+8_894+12delinsGTATT XP_011528980.1:n.894+8_894+12delinsGTATT
XR_430476.2:n.1289+8_1289+12delinsGTATT
XM_011530678.2:c.894+8_894+12delinsGTATT XP_011528980.1:n.894+8_894+12delinsGTATT
XM_017028671.1:c.894+8_894+12delinsGTATT XP_016884160.1:n.894+8_894+12delinsGTATT
XR_001755180.2:n.1399+8_1399+12delinsGTATT
XR_001755181.2:n.1167+8_1167+12delinsGTATT
NM_001376472.1:c.894+8_894+12delinsGTATT NP_001363401.1:n.894+8_894+12delinsGTATT
NM_001376473.1:c.894+8_894+12delinsGTATT NP_001363402.1:n.894+8_894+12delinsGTATT
NM_001376474.1:c.894+8_894+12delinsGTATT NP_001363403.1:n.894+8_894+12delinsGTATT
NM_001376475.1:c.894+8_894+12delinsGTATT NP_001363404.1:n.894+8_894+12delinsGTATT
NM_001376476.1:c.894+8_894+12delinsGTATT NP_001363405.1:n.894+8_894+12delinsGTATT
NM_001376477.1:c.894+8_894+12delinsGTATT NP_001363406.1:n.894+8_894+12delinsGTATT
NM_001376478.1:c.894+8_894+12delinsGTATT NP_001363407.1:n.894+8_894+12delinsGTATT
NM_001376479.1:c.837+8_837+12delinsGTATT NP_001363408.1:n.837+8_837+12delinsGTATT
NM_001376480.1:c.804+8_804+12delinsGTATT NP_001363409.1:n.804+8_804+12delinsGTATT
NM_001376481.1:c.792+8_792+12delinsGTATT NP_001363410.1:n.792+8_792+12delinsGTATT
NM_001376482.1:c.738+8_738+12delinsGTATT NP_001363411.1:n.738+8_738+12delinsGTATT
NM_001376483.1:c.738+8_738+12delinsGTATT NP_001363412.1:n.738+8_738+12delinsGTATT
NM_001376484.1:c.657+8_657+12delinsGTATT NP_001363413.1:n.657+8_657+12delinsGTATT
NM_015166.4:c.894+8_894+12delinsGTATT MANE Select NP_055981.1:n.894+8_894+12delinsGTATT
NM_139202.3:c.894+8_894+12delinsGTATT NP_631941.1:n.894+8_894+12delinsGTATT
NR_164811.1:n.1241+8_1241+12delinsGTATT
NR_164812.1:n.1025+8_1025+12delinsGTATT
NR_164813.1:n.1418+8_1418+12delinsGTATT