Canonical Allele Identifier: CA311065077

Gene: MAVS

Linked Data

• dbSNP Id: rs930935126
• gnomAD v2: 20-3838202-C-CG
• gnomAD v3: 20-3857555-C-CG
• gnomAD v4: 20-3857555-C-CG
• MyVariant Identifiers: chr20:g.3838202_3838203insG (hg19) ; chr20:g.3857555_3857556insG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.3857555_3857556insG , CM000682.2:g.3857555_3857556insG	GRCh38
NC_000020.10:g.3838202_3838203insG , CM000682.1:g.3838202_3838203insG	GRCh37
NC_000020.9:g.3786202_3786203insG	NCBI36
NG_030028.1:g.15757_15758insG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000428216.4:c.118-80_118-79insG MANE Select	ENSP00000401980.2:n.118-80_118-79insG
ENST00000416600.6:c.-132+2814_-132+2815insG	ENSP00000413749.2:n.-132+2814_-132+2815insG
ENST00000428216.3:c.118-80_118-79insG	ENSP00000401980.2:n.118-80_118-79insG
NM_001206491.1:c.-132+2814_-132+2815insG	NP_001193420.1:n.-132+2814_-132+2815insG
NM_020746.4:c.118-80_118-79insG	NP_065797.2:n.118-80_118-79insG
NR_037921.1:n.290-80_290-79insG
NM_020746.5:c.118-80_118-79insG MANE Select	NP_065797.2:n.118-80_118-79insG
NR_037921.2:n.255-80_255-79insG
NM_001206491.2:c.-132+2814_-132+2815insG	NP_001193420.1:n.-132+2814_-132+2815insG
NM_001385663.1:c.-430-80_-430-79insG	NP_001372592.1:n.-430-80_-430-79insG