Canonical Allele Identifier: CA626054602

Gene: MLX

Linked Data

• dbSNP Id: rs1567910000
• gnomAD v2: 17-40723578-TTG-T
• gnomAD v4: 17-42571560-TTG-T
• MyVariant Identifiers: chr17:g.40723579_40723580del (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.42571563_42571564del , CM000679.2:g.42571563_42571564del	GRCh38
NC_000017.10:g.40723581_40723582del , CM000679.1:g.40723581_40723582del	GRCh37
NC_000017.9:g.37977107_37977108del	NCBI36
NG_029442.1:g.9504_9505del
NG_031960.1:g.11270_11271del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000435881.7:c.695_696del MANE Select	ENSP00000416627.1:p.Val232AspfsTer28
ENST00000246912.8:c.857_858del	ENSP00000246912.3:p.Val286AspfsTer28
ENST00000346833.8:c.605_606del	ENSP00000320913.3:p.Val202AspfsTer28
ENST00000435881.6:c.695_696del	ENSP00000416627.1:p.Val232AspfsTer28
ENST00000585403.5:n.902_903del
ENST00000588320.1:n.1171_1172del
ENST00000590050.5:n.861_862del
NM_170607.2:c.857_858del	NP_733752.1:p.Val286AspfsTer28
NM_198204.1:c.695_696del	NP_937847.1:p.Val232AspfsTer28
NM_198205.1:c.605_606del	NP_937848.1:p.Val202AspfsTer28
NM_198204.2:c.695_696del MANE Select	NP_937847.1:p.Val232AspfsTer28
NM_170607.3:c.857_858del	NP_733752.1:p.Val286AspfsTer28
NM_198205.2:c.605_606del	NP_937848.1:p.Val202AspfsTer28