Canonical Allele Identifier: CA10622330

Gene: MMUT

Linked Data

• ClinVar Variation Id: 357247
• ClinVar RCV Id: RCV000326766 ; RCV001712090
• dbSNP Id: rs10713340
• gnomAD v2: 6-49399239-AT-A
• gnomAD v3: 6-49431526-AT-A
• gnomAD v4: 6-49431526-AT-A
• COSMIC: COSN20102922 ; COSN20102923 ; COSN20102924
• MyVariant Identifiers: chr6:g.49399240del (hg19) ; chr6:g.49431527del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.49431536del , CM000668.2:g.49431536del	GRCh38
NC_000006.11:g.49399249del , CM000668.1:g.49399249del	GRCh37
NC_000006.10:g.49507208del	NCBI36
NG_007100.1:g.36613del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000274813.4:c.*201del MANE Select	ENSP00000274813.3:n.*201del
ENST00000274813.3:c.*201del	ENSP00000274813.3:n.*201del
NM_000255.3:c.*201del	NP_000246.2:n.*201del
XM_005249143.2:c.*201del	XP_005249200.1:n.*201del
XM_005249143.3:c.*201del	XP_005249200.1:n.*201del
NM_000255.4:c.*201del MANE Select	NP_000246.2:n.*201del