Canonical Allele Identifier: CA311065059

Gene: MAVS

Linked Data

• dbSNP Id: rs767040934
• gnomAD v4: 20-3857552-T-TC
• MyVariant Identifiers: chr20:g.3838199_3838200insC (hg19) ; chr20:g.3857552_3857553insC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.3857558dup , CM000682.2:g.3857558dup	GRCh38
NC_000020.10:g.3838205dup , CM000682.1:g.3838205dup	GRCh37
NC_000020.9:g.3786205dup	NCBI36
NG_030028.1:g.15760dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000428216.4:c.118-77dup MANE Select	ENSP00000401980.2:n.118-77dup
ENST00000416600.6:c.-132+2817dup	ENSP00000413749.2:n.-132+2817dup
ENST00000428216.3:c.118-77dup	ENSP00000401980.2:n.118-77dup
NM_001206491.1:c.-132+2817dup	NP_001193420.1:n.-132+2817dup
NM_020746.4:c.118-77dup	NP_065797.2:n.118-77dup
NR_037921.1:n.290-77dup
NM_020746.5:c.118-77dup MANE Select	NP_065797.2:n.118-77dup
NR_037921.2:n.255-77dup
NM_001206491.2:c.-132+2817dup	NP_001193420.1:n.-132+2817dup
NM_001385663.1:c.-430-77dup	NP_001372592.1:n.-430-77dup