Canonical Allele Identifier: CA754024781

Gene: MLC1

Linked Data

• dbSNP Id: rs1168366142
• MyVariant Identifiers: chr22:g.50506827_50506828del (hg19) ; chr22:g.50068398_50068399del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50068398_50068399del , CM000684.2:g.50068398_50068399del	GRCh38
NC_000022.10:g.50506827_50506828del , CM000684.1:g.50506827_50506828del	GRCh37
NC_000022.9:g.48848954_48848955del	NCBI36
NG_009162.1:g.22531_22532del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000311597.10:c.894+34_894+35del MANE Select	ENSP00000310375.6:n.894+34_894+35del
ENST00000311597.9:c.894+34_894+35del	ENSP00000310375.5:n.894+34_894+35del
ENST00000395876.6:c.894+34_894+35del	ENSP00000379216.2:n.894+34_894+35del
ENST00000483836.1:n.251+34_251+35del
NM_015166.3:c.894+34_894+35del	NP_055981.1:n.894+34_894+35del
NM_139202.2:c.894+34_894+35del	NP_631941.1:n.894+34_894+35del
XM_011530678.1:c.894+34_894+35del	XP_011528980.1:n.894+34_894+35del
XR_430476.2:n.1289+34_1289+35del
XM_011530678.2:c.894+34_894+35del	XP_011528980.1:n.894+34_894+35del
XM_017028671.1:c.894+34_894+35del	XP_016884160.1:n.894+34_894+35del
XR_001755180.2:n.1399+34_1399+35del
XR_001755181.2:n.1167+34_1167+35del
NM_001376472.1:c.894+34_894+35del	NP_001363401.1:n.894+34_894+35del
NM_001376473.1:c.894+34_894+35del	NP_001363402.1:n.894+34_894+35del
NM_001376474.1:c.894+34_894+35del	NP_001363403.1:n.894+34_894+35del
NM_001376475.1:c.894+34_894+35del	NP_001363404.1:n.894+34_894+35del
NM_001376476.1:c.894+34_894+35del	NP_001363405.1:n.894+34_894+35del
NM_001376477.1:c.894+34_894+35del	NP_001363406.1:n.894+34_894+35del
NM_001376478.1:c.894+34_894+35del	NP_001363407.1:n.894+34_894+35del
NM_001376479.1:c.837+34_837+35del	NP_001363408.1:n.837+34_837+35del
NM_001376480.1:c.804+34_804+35del	NP_001363409.1:n.804+34_804+35del
NM_001376481.1:c.792+34_792+35del	NP_001363410.1:n.792+34_792+35del
NM_001376482.1:c.738+34_738+35del	NP_001363411.1:n.738+34_738+35del
NM_001376483.1:c.738+34_738+35del	NP_001363412.1:n.738+34_738+35del
NM_001376484.1:c.657+34_657+35del	NP_001363413.1:n.657+34_657+35del
NM_015166.4:c.894+34_894+35del MANE Select	NP_055981.1:n.894+34_894+35del
NM_139202.3:c.894+34_894+35del	NP_631941.1:n.894+34_894+35del
NR_164811.1:n.1241+34_1241+35del
NR_164812.1:n.1025+34_1025+35del
NR_164813.1:n.1418+34_1418+35del