Canonical Allele Identifier: CA2538749069

Gene: MATN3

Linked Data

• dbSNP Id: rs2103483799
• gnomAD v4: 2-20005658-A-AG

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.20005658_20005659insG , CM000664.2:g.20005658_20005659insG	GRCh38
NC_000002.11:g.20205419_20205420insG , CM000664.1:g.20205419_20205420insG	GRCh37
NC_000002.10:g.20068900_20068901insG	NCBI36
NG_008087.1:g.12036_12037insC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000407540.8:c.790+85_790+86insC MANE Select	ENSP00000383894.3:n.790+85_790+86insC
ENST00000407540.7:c.790+85_790+86insC	ENSP00000383894.3:n.790+85_790+86insC
ENST00000421259.2:c.790+85_790+86insC	ENSP00000398753.2:n.790+85_790+86insC
NM_002381.4:c.790+85_790+86insC	NP_002372.1:n.790+85_790+86insC
NM_002381.5:c.790+85_790+86insC MANE Select	NP_002372.1:n.790+85_790+86insC