Canonical Allele Identifier: CA1014898446

Gene: MAVS

Linked Data

• dbSNP Id: rs775673112
• gnomAD v3: 20-3857896-TTC-T
• gnomAD v4: 20-3857896-TTC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.3857900_3857901del , CM000682.2:g.3857900_3857901del	GRCh38
NC_000020.10:g.3838547_3838548del , CM000682.1:g.3838547_3838548del	GRCh37
NC_000020.9:g.3786547_3786548del	NCBI36
NG_030028.1:g.16102_16103del

Transcript Alleles

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