Canonical Allele Identifier: CA2651759253

Gene: MAVS

Linked Data

• gnomAD v4: 20-3857814-GCGTC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.3857816_3857819del , CM000682.2:g.3857816_3857819del	GRCh38
NC_000020.10:g.3838463_3838466del , CM000682.1:g.3838463_3838466del	GRCh37
NC_000020.9:g.3786463_3786466del	NCBI36
NG_030028.1:g.16018_16021del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000428216.4:c.292+7_292+10del MANE Select	ENSP00000401980.2:n.292+7_292+10del
ENST00000416600.6:c.-132+3075_-132+3078del	ENSP00000413749.2:n.-132+3075_-132+3078del
ENST00000428216.3:c.292+7_292+10del	ENSP00000401980.2:n.292+7_292+10del
NM_001206491.1:c.-132+3075_-132+3078del	NP_001193420.1:n.-132+3075_-132+3078del
NM_020746.4:c.292+7_292+10del	NP_065797.2:n.292+7_292+10del
NR_037921.1:n.464+7_464+10del
NM_020746.5:c.292+7_292+10del MANE Select	NP_065797.2:n.292+7_292+10del
NR_037921.2:n.429+7_429+10del
NM_001206491.2:c.-132+3075_-132+3078del	NP_001193420.1:n.-132+3075_-132+3078del
NM_001385663.1:c.-256+7_-256+10del	NP_001372592.1:n.-256+7_-256+10del