Canonical Allele Identifier: CA2651759250

Gene: MAVS

Linked Data

• dbSNP Id: rs2146765495
• gnomAD v4: 20-3857777-AAGTGGCCTCTGTCTACCAGAGCTACCAGCCTCGTG-A

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.3857780_3857814del , CM000682.2:g.3857780_3857814del	GRCh38
NC_000020.10:g.3838427_3838461del , CM000682.1:g.3838427_3838461del	GRCh37
NC_000020.9:g.3786427_3786461del	NCBI36
NG_030028.1:g.15982_16016del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000428216.4:c.263_292+5del
ENST00000416600.6:c.-132+3039_-132+3073del	ENSP00000413749.2:n.-132+3039_-132+3073del
ENST00000428216.3:c.263_292+5del
NM_001206491.1:c.-132+3039_-132+3073del	NP_001193420.1:n.-132+3039_-132+3073del
NM_020746.4:c.263_292+5del
NR_037921.1:n.435_464+5del
NM_020746.5:c.263_292+5del
NR_037921.2:n.400_429+5del
NM_001206491.2:c.-132+3039_-132+3073del	NP_001193420.1:n.-132+3039_-132+3073del
NM_001385663.1:c.-285_-256+5del