Canonical Allele Identifier: CA311065088

Gene: MAVS

Linked Data

• dbSNP Id: rs11087609
• gnomAD v2: 20-3838205-C-CT
• gnomAD v3: 20-3857558-C-CT
• gnomAD v4: 20-3857558-C-CT
• MyVariant Identifiers: chr20:g.3838205_3838206insT (hg19) ; chr20:g.3857558_3857559insT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.3857558_3857559insT , CM000682.2:g.3857558_3857559insT	GRCh38
NC_000020.10:g.3838205_3838206insT , CM000682.1:g.3838205_3838206insT	GRCh37
NC_000020.9:g.3786205_3786206insT	NCBI36
NG_030028.1:g.15760_15761insT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000428216.4:c.118-77_118-76insT MANE Select	ENSP00000401980.2:n.118-77_118-76insT
ENST00000416600.6:c.-132+2817_-132+2818insT	ENSP00000413749.2:n.-132+2817_-132+2818insT
ENST00000428216.3:c.118-77_118-76insT	ENSP00000401980.2:n.118-77_118-76insT
NM_001206491.1:c.-132+2817_-132+2818insT	NP_001193420.1:n.-132+2817_-132+2818insT
NM_020746.4:c.118-77_118-76insT	NP_065797.2:n.118-77_118-76insT
NR_037921.1:n.290-77_290-76insT
NM_020746.5:c.118-77_118-76insT MANE Select	NP_065797.2:n.118-77_118-76insT
NR_037921.2:n.255-77_255-76insT
NM_001206491.2:c.-132+2817_-132+2818insT	NP_001193420.1:n.-132+2817_-132+2818insT
NM_001385663.1:c.-430-77_-430-76insT	NP_001372592.1:n.-430-77_-430-76insT