Canonical Allele Identifier: CA290776781

Gene: MLX

Linked Data

• dbSNP Id: rs888436341
• gnomAD v2: 17-40723600-AT-A
• gnomAD v3: 17-42571582-AT-A
• gnomAD v4: 17-42571582-AT-A
• MyVariant Identifiers: chr17:g.40723601del (hg19) ; chr17:g.42571583del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.42571584del , CM000679.2:g.42571584del	GRCh38
NC_000017.10:g.40723602del , CM000679.1:g.40723602del	GRCh37
NC_000017.9:g.37977128del	NCBI36
NG_029442.1:g.9525del
NG_031960.1:g.11249del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000435881.7:c.716del MANE Select	ENSP00000416627.1:p.Leu239Ter
ENST00000246912.8:c.878del	ENSP00000246912.3:p.Leu293Ter
ENST00000346833.8:c.626del	ENSP00000320913.3:p.Leu209Ter
ENST00000435881.6:c.716del	ENSP00000416627.1:p.Leu239Ter
ENST00000585403.5:n.923del
ENST00000588320.1:n.1192del
ENST00000590050.5:n.882del
NM_170607.2:c.878del	NP_733752.1:p.Leu293Ter
NM_198204.1:c.716del	NP_937847.1:p.Leu239Ter
NM_198205.1:c.626del	NP_937848.1:p.Leu209Ter
NM_198204.2:c.716del MANE Select	NP_937847.1:p.Leu239Ter
NM_170607.3:c.878del	NP_733752.1:p.Leu293Ter
NM_198205.2:c.626del	NP_937848.1:p.Leu209Ter