Canonical Allele Identifier: CA2577758395

Gene: MLC1

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50079921del , CM000684.2:g.50079921del	GRCh38
NC_000022.10:g.50518350del , CM000684.1:g.50518350del	GRCh37
NC_000022.9:g.48860477del	NCBI36
NG_009162.1:g.11011del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000311597.10:c.422del MANE Select	ENSP00000310375.6:p.Asn141ThrfsTer20
ENST00000311597.9:c.422del	ENSP00000310375.5:p.Asn141ThrfsTer20
ENST00000395876.6:c.422del	ENSP00000379216.2:p.Asn141ThrfsTer20
ENST00000442311.1:c.332del	ENSP00000401385.1:p.Asn111ThrfsTer20
NM_015166.3:c.422del	NP_055981.1:p.Asn141ThrfsTer20
NM_139202.2:c.422del	NP_631941.1:p.Asn141ThrfsTer20
XM_011530678.1:c.422del	XP_011528980.1:p.Asn141ThrfsTer20
XR_430476.2:n.817del
XM_011530678.2:c.422del	XP_011528980.1:p.Asn141ThrfsTer20
XM_017028671.1:c.422del	XP_016884160.1:p.Asn141ThrfsTer20
XR_001755180.2:n.927del
XR_001755181.2:n.695del
NM_001376472.1:c.422del	NP_001363401.1:p.Asn141ThrfsTer20
NM_001376473.1:c.422del	NP_001363402.1:p.Asn141ThrfsTer20
NM_001376474.1:c.422del	NP_001363403.1:p.Asn141ThrfsTer20
NM_001376475.1:c.422del	NP_001363404.1:p.Asn141ThrfsTer20
NM_001376476.1:c.422del	NP_001363405.1:p.Asn141ThrfsTer20
NM_001376477.1:c.422del	NP_001363406.1:p.Asn141ThrfsTer20
NM_001376478.1:c.422del	NP_001363407.1:p.Asn141ThrfsTer20
NM_001376479.1:c.422del	NP_001363408.1:p.Asn141ThrfsTer20
NM_001376480.1:c.332del	NP_001363409.1:p.Asn111ThrfsTer20
NM_001376481.1:c.321+425del	NP_001363410.1:n.321+425del
NM_001376482.1:c.268-2417del	NP_001363411.1:n.268-2417del
NM_001376483.1:c.268-2417del	NP_001363412.1:n.268-2417del
NM_001376484.1:c.185del	NP_001363413.1:p.Asn62ThrfsTer20
NM_015166.4:c.422del MANE Select	NP_055981.1:p.Asn141ThrfsTer20
NM_139202.3:c.422del	NP_631941.1:p.Asn141ThrfsTer20
NR_164811.1:n.769del
NR_164812.1:n.553del
NR_164813.1:n.946del