Canonical Allele Identifier: CA2651759201

Gene: MAVS

Linked Data

• gnomAD v4: 20-3857561-T-TGTGGCTTCATTCTGGGTGGGGAA

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.3857567_3857589dup , CM000682.2:g.3857567_3857589dup	GRCh38
NC_000020.10:g.3838214_3838236dup , CM000682.1:g.3838214_3838236dup	GRCh37
NC_000020.9:g.3786214_3786236dup	NCBI36
NG_030028.1:g.15769_15791dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000428216.4:c.118-68_118-46dup MANE Select	ENSP00000401980.2:n.118-68_118-46dup
ENST00000416600.6:c.-132+2826_-132+2848dup	ENSP00000413749.2:n.-132+2826_-132+2848dup
ENST00000428216.3:c.118-68_118-46dup	ENSP00000401980.2:n.118-68_118-46dup
NM_001206491.1:c.-132+2826_-132+2848dup	NP_001193420.1:n.-132+2826_-132+2848dup
NM_020746.4:c.118-68_118-46dup	NP_065797.2:n.118-68_118-46dup
NR_037921.1:n.290-68_290-46dup
NM_020746.5:c.118-68_118-46dup MANE Select	NP_065797.2:n.118-68_118-46dup
NR_037921.2:n.255-68_255-46dup
NM_001206491.2:c.-132+2826_-132+2848dup	NP_001193420.1:n.-132+2826_-132+2848dup
NM_001385663.1:c.-430-68_-430-46dup	NP_001372592.1:n.-430-68_-430-46dup