Canonical Allele Identifier: CA9750050

Gene: MAVS

Linked Data

• dbSNP Id: rs775673112
• ExAC: 20:3838543 T / TTC
• gnomAD v2: 20-3838543-T-TTC
• gnomAD v3: 20-3857896-T-TTC
• gnomAD v4: 20-3857896-T-TTC
• MyVariant Identifiers: chr20:g.3838543_3838544insTC (hg19) ; chr20:g.3857896_3857897insTC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.3857900_3857901dup , CM000682.2:g.3857900_3857901dup	GRCh38
NC_000020.10:g.3838547_3838548dup , CM000682.1:g.3838547_3838548dup	GRCh37
NC_000020.9:g.3786547_3786548dup	NCBI36
NG_030028.1:g.16102_16103dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000428216.4:c.292+91_292+92dup MANE Select	ENSP00000401980.2:n.292+91_292+92dup
ENST00000416600.6:c.-132+3159_-132+3160dup	ENSP00000413749.2:n.-132+3159_-132+3160dup
ENST00000428216.3:c.292+91_292+92dup	ENSP00000401980.2:n.292+91_292+92dup
NM_001206491.1:c.-132+3159_-132+3160dup	NP_001193420.1:n.-132+3159_-132+3160dup
NM_020746.4:c.292+91_292+92dup	NP_065797.2:n.292+91_292+92dup
NR_037921.1:n.464+91_464+92dup
NM_020746.5:c.292+91_292+92dup MANE Select	NP_065797.2:n.292+91_292+92dup
NR_037921.2:n.429+91_429+92dup
NM_001206491.2:c.-132+3159_-132+3160dup	NP_001193420.1:n.-132+3159_-132+3160dup
NM_001385663.1:c.-256+91_-256+92dup	NP_001372592.1:n.-256+91_-256+92dup