Canonical Allele Identifier: CA2493007779

Gene: MATN3

Linked Data

• dbSNP Id: rs1553327642
• gnomAD v4: 2-20005663-A-AAAGG

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.20005663_20005664insAAGG , CM000664.2:g.20005663_20005664insAAGG	GRCh38
NC_000002.11:g.20205424_20205425insAAGG , CM000664.1:g.20205424_20205425insAAGG	GRCh37
NC_000002.10:g.20068905_20068906insAAGG	NCBI36
NG_008087.1:g.12031_12032insCCTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000407540.8:c.790+80_790+81insCCTT MANE Select	ENSP00000383894.3:n.790+80_790+81insCCTT
ENST00000407540.7:c.790+80_790+81insCCTT	ENSP00000383894.3:n.790+80_790+81insCCTT
ENST00000421259.2:c.790+80_790+81insCCTT	ENSP00000398753.2:n.790+80_790+81insCCTT
NM_002381.4:c.790+80_790+81insCCTT	NP_002372.1:n.790+80_790+81insCCTT
NM_002381.5:c.790+80_790+81insCCTT MANE Select	NP_002372.1:n.790+80_790+81insCCTT