Canonical Allele Identifier: CA2651759241

Gene: MAVS

Linked Data

• gnomAD v4: 20-3857602-G-GCTTGA

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.3857603_3857607dup , CM000682.2:g.3857603_3857607dup	GRCh38
NC_000020.10:g.3838250_3838254dup , CM000682.1:g.3838250_3838254dup	GRCh37
NC_000020.9:g.3786250_3786254dup	NCBI36
NG_030028.1:g.15805_15809dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000428216.4:c.118-32_118-28dup MANE Select	ENSP00000401980.2:n.118-32_118-28dup
ENST00000416600.6:c.-132+2862_-132+2866dup	ENSP00000413749.2:n.-132+2862_-132+2866dup
ENST00000428216.3:c.118-32_118-28dup	ENSP00000401980.2:n.118-32_118-28dup
NM_001206491.1:c.-132+2862_-132+2866dup	NP_001193420.1:n.-132+2862_-132+2866dup
NM_020746.4:c.118-32_118-28dup	NP_065797.2:n.118-32_118-28dup
NR_037921.1:n.290-32_290-28dup
NM_020746.5:c.118-32_118-28dup MANE Select	NP_065797.2:n.118-32_118-28dup
NR_037921.2:n.255-32_255-28dup
NM_001206491.2:c.-132+2862_-132+2866dup	NP_001193420.1:n.-132+2862_-132+2866dup
NM_001385663.1:c.-430-32_-430-28dup	NP_001372592.1:n.-430-32_-430-28dup