Canonical Allele Identifier: CA1014898236

Gene: MAVS

Linked Data

• dbSNP Id: rs2089821853
• gnomAD v3: 20-3857557-C-CA
• gnomAD v4: 20-3857557-C-CA

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.3857557_3857558insA , CM000682.2:g.3857557_3857558insA	GRCh38
NC_000020.10:g.3838204_3838205insA , CM000682.1:g.3838204_3838205insA	GRCh37
NC_000020.9:g.3786204_3786205insA	NCBI36
NG_030028.1:g.15759_15760insA

Transcript Alleles

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