Canonical Allele Identifier: CA2410653022

Gene: MLC1

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50074227_50074228delinsTC , CM000684.2:g.50074227_50074228delinsTC	GRCh38
NC_000022.10:g.50512656_50512657delinsTC , CM000684.1:g.50512656_50512657delinsTC	GRCh37
NC_000022.9:g.48854783_48854784delinsTC	NCBI36
NG_009162.1:g.16702_16703delinsGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000311597.10:c.702_703delinsGA MANE Select	ENSP00000310375.6:p.Trp234=
ENST00000311597.9:c.702_703delinsGA	ENSP00000310375.5:p.Trp234=
ENST00000395876.6:c.702_703delinsGA	ENSP00000379216.2:p.Trp234=
ENST00000442311.1:c.612_613delinsGA	ENSP00000401385.1:p.Trp204=
ENST00000470008.1:n.182_183delinsGA
NM_015166.3:c.702_703delinsGA	NP_055981.1:p.Trp234=
NM_139202.2:c.702_703delinsGA	NP_631941.1:p.Trp234=
XM_011530678.1:c.702_703delinsGA	XP_011528980.1:p.Trp234=
XR_430476.2:n.1097_1098delinsGA
XM_011530678.2:c.702_703delinsGA	XP_011528980.1:p.Trp234=
XM_017028671.1:c.702_703delinsGA	XP_016884160.1:p.Trp234=
XR_001755180.2:n.1207_1208delinsGA
XR_001755181.2:n.975_976delinsGA
NM_001376472.1:c.702_703delinsGA	NP_001363401.1:p.Trp234=
NM_001376473.1:c.702_703delinsGA	NP_001363402.1:p.Trp234=
NM_001376474.1:c.702_703delinsGA	NP_001363403.1:p.Trp234=
NM_001376475.1:c.702_703delinsGA	NP_001363404.1:p.Trp234=
NM_001376476.1:c.702_703delinsGA	NP_001363405.1:p.Trp234=
NM_001376477.1:c.702_703delinsGA	NP_001363406.1:p.Trp234=
NM_001376478.1:c.702_703delinsGA	NP_001363407.1:p.Trp234=
NM_001376479.1:c.702_703delinsGA	NP_001363408.1:p.Trp234=
NM_001376480.1:c.612_613delinsGA	NP_001363409.1:p.Trp204=
NM_001376481.1:c.600_601delinsGA	NP_001363410.1:p.Trp200=
NM_001376482.1:c.546_547delinsGA	NP_001363411.1:p.Trp182=
NM_001376483.1:c.546_547delinsGA	NP_001363412.1:p.Trp182=
NM_001376484.1:c.465_466delinsGA	NP_001363413.1:p.Trp155=
NM_015166.4:c.702_703delinsGA MANE Select	NP_055981.1:p.Trp234=
NM_139202.3:c.702_703delinsGA	NP_631941.1:p.Trp234=
NR_164811.1:n.1049_1050delinsGA
NR_164812.1:n.833_834delinsGA
NR_164813.1:n.1226_1227delinsGA