Canonical Allele Identifier: CA8184115

Gene: MAF

Linked Data

• ClinVar Variation Id: 259752
• ClinVar RCV Id: RCV000254425 ; RCV001610662 ; RCV001775744 ; RCV001775745
• dbSNP Id: rs5818251
• ExAC: 16:79633805 TGCC / T
• gnomAD v2: 16-79633805-TGCC-T
• gnomAD v3: 16-79599908-TGCC-T
• gnomAD v4: 16-79599908-TGCC-T
• MyVariant Identifiers: chr16:g.79633815_79633817del (hg19) ; chr16:g.79633806_79633808del (hg19) ; chr16:g.79599918_79599920del (hg38) ; chr16:g.79599909_79599911del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.79599932_79599934del , CM000678.2:g.79599932_79599934del	GRCh38
NC_000016.9:g.79633829_79633831del , CM000678.1:g.79633829_79633831del	GRCh37
NC_000016.8:g.78191330_78191332del	NCBI36
NG_016440.1:g.5815_5817del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000326043.5:c.-9_-7del MANE Select	ENSP00000327048.4:n.-9_-7del
ENST00000326043.4:c.-9_-7del	ENSP00000327048.4:n.-9_-7del
ENST00000393350.1:c.-9_-7del	ENSP00000377019.1:n.-9_-7del
NM_001031804.2:c.-9_-7del	NP_001026974.1:n.-9_-7del
NM_005360.4:c.-9_-7del	NP_005351.2:n.-9_-7del
XM_011523084.1:c.-9_-7del	XP_011521386.1:n.-9_-7del
XM_017023233.2:c.-9_-7del	XP_016878722.1:n.-9_-7del
XM_017023234.2:c.-9_-7del	XP_016878723.1:n.-9_-7del
XM_017023235.2:c.-9_-7del	XP_016878724.1:n.-9_-7del
XM_024450279.1:c.-9_-7del	XP_024306047.1:n.-9_-7del
XR_001751902.2:n.2042_2044del
XR_002957802.1:n.2042_2044del
XR_002957803.1:n.2042_2044del
XR_002957804.1:n.2042_2044del
NM_005360.5:c.-9_-7del MANE Select	NP_005351.2:n.-9_-7del
NM_001031804.3:c.-9_-7del	NP_001026974.1:n.-9_-7del