Canonical Allele Identifier: CA2651759197

Gene: MAVS

Linked Data

• gnomAD v4: 20-3857557-C-CT

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.3857557_3857558insT , CM000682.2:g.3857557_3857558insT	GRCh38
NC_000020.10:g.3838204_3838205insT , CM000682.1:g.3838204_3838205insT	GRCh37
NC_000020.9:g.3786204_3786205insT	NCBI36
NG_030028.1:g.15759_15760insT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000428216.4:c.118-78_118-77insT MANE Select	ENSP00000401980.2:n.118-78_118-77insT
ENST00000416600.6:c.-132+2816_-132+2817insT	ENSP00000413749.2:n.-132+2816_-132+2817insT
ENST00000428216.3:c.118-78_118-77insT	ENSP00000401980.2:n.118-78_118-77insT
NM_001206491.1:c.-132+2816_-132+2817insT	NP_001193420.1:n.-132+2816_-132+2817insT
NM_020746.4:c.118-78_118-77insT	NP_065797.2:n.118-78_118-77insT
NR_037921.1:n.290-78_290-77insT
NM_020746.5:c.118-78_118-77insT MANE Select	NP_065797.2:n.118-78_118-77insT
NR_037921.2:n.255-78_255-77insT
NM_001206491.2:c.-132+2816_-132+2817insT	NP_001193420.1:n.-132+2816_-132+2817insT
NM_001385663.1:c.-430-78_-430-77insT	NP_001372592.1:n.-430-78_-430-77insT