Canonical Allele Identifier: CA8578780

Gene: MLX

Linked Data

• dbSNP Id: rs575488851
• ExAC: 17:40723651 A / ATCTTGTTGGCTGTT
• gnomAD v2: 17-40723651-A-ATCTTGTTGGCTGTT
• gnomAD v3: 17-42571633-A-ATCTTGTTGGCTGTT
• gnomAD v4: 17-42571633-A-ATCTTGTTGGCTGTT
• MyVariant Identifiers: chr17:g.40723651_40723652insTCTTGTTGGCTGTT (hg19) ; chr17:g.42571633_42571634insTCTTGTTGGCTGTT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.42571633_42571634insTCTTGTTGGCTGTT , CM000679.2:g.42571633_42571634insTCTTGTTGGCTGTT	GRCh38
NC_000017.10:g.40723651_40723652insTCTTGTTGGCTGTT , CM000679.1:g.40723651_40723652insTCTTGTTGGCTGTT	GRCh37
NC_000017.9:g.37977177_37977178insTCTTGTTGGCTGTT	NCBI36
NG_029442.1:g.9574_9575insTCTTGTTGGCTGTT
NG_031960.1:g.11198_11199insAACAGCCAACAAGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000435881.7:c.*30_*31insTCTTGTTGGCTGTT MANE Select	ENSP00000416627.1:n.*30_*31insTCTTGTTGGCTGTT
ENST00000246912.8:c.*30_*31insTCTTGTTGGCTGTT	ENSP00000246912.3:n.*30_*31insTCTTGTTGGCTGTT
ENST00000346833.8:c.*30_*31insTCTTGTTGGCTGTT	ENSP00000320913.3:n.*30_*31insTCTTGTTGGCTGTT
ENST00000435881.6:c.*30_*31insTCTTGTTGGCTGTT	ENSP00000416627.1:n.*30_*31insTCTTGTTGGCTGTT
ENST00000585403.5:n.972_973insTCTTGTTGGCTGTT
ENST00000588320.1:n.1241_1242insTCTTGTTGGCTGTT
ENST00000590050.5:n.931_932insTCTTGTTGGCTGTT
NM_170607.2:c.*30_*31insTCTTGTTGGCTGTT	NP_733752.1:n.*30_*31insTCTTGTTGGCTGTT
NM_198204.1:c.*30_*31insTCTTGTTGGCTGTT	NP_937847.1:n.*30_*31insTCTTGTTGGCTGTT
NM_198205.1:c.*30_*31insTCTTGTTGGCTGTT	NP_937848.1:n.*30_*31insTCTTGTTGGCTGTT
NM_198204.2:c.*30_*31insTCTTGTTGGCTGTT MANE Select	NP_937847.1:n.*30_*31insTCTTGTTGGCTGTT
NM_170607.3:c.*30_*31insTCTTGTTGGCTGTT	NP_733752.1:n.*30_*31insTCTTGTTGGCTGTT
NM_198205.2:c.*30_*31insTCTTGTTGGCTGTT	NP_937848.1:n.*30_*31insTCTTGTTGGCTGTT