Canonical Allele Identifier: CA1014898229

Gene: MAVS

Linked Data

• dbSNP Id: rs2089821823
• gnomAD v3: 20-3857556-C-CT
• gnomAD v4: 20-3857556-C-CT

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.3857556_3857557insT , CM000682.2:g.3857556_3857557insT	GRCh38
NC_000020.10:g.3838203_3838204insT , CM000682.1:g.3838203_3838204insT	GRCh37
NC_000020.9:g.3786203_3786204insT	NCBI36
NG_030028.1:g.15758_15759insT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000428216.4:c.118-79_118-78insT MANE Select	ENSP00000401980.2:n.118-79_118-78insT
ENST00000416600.6:c.-132+2815_-132+2816insT	ENSP00000413749.2:n.-132+2815_-132+2816insT
ENST00000428216.3:c.118-79_118-78insT	ENSP00000401980.2:n.118-79_118-78insT
NM_001206491.1:c.-132+2815_-132+2816insT	NP_001193420.1:n.-132+2815_-132+2816insT
NM_020746.4:c.118-79_118-78insT	NP_065797.2:n.118-79_118-78insT
NR_037921.1:n.290-79_290-78insT
NM_020746.5:c.118-79_118-78insT MANE Select	NP_065797.2:n.118-79_118-78insT
NR_037921.2:n.255-79_255-78insT
NM_001206491.2:c.-132+2815_-132+2816insT	NP_001193420.1:n.-132+2815_-132+2816insT
NM_001385663.1:c.-430-79_-430-78insT	NP_001372592.1:n.-430-79_-430-78insT