Canonical Allele Identifier: CA1028161320

Gene: MATN3

Linked Data

• dbSNP Id: rs1673082395
• gnomAD v3: 2-20005631-ATTTAAG-A
• gnomAD v4: 2-20005631-ATTTAAG-A

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.20005635_20005640del , CM000664.2:g.20005635_20005640del	GRCh38
NC_000002.11:g.20205396_20205401del , CM000664.1:g.20205396_20205401del	GRCh37
NC_000002.10:g.20068877_20068882del	NCBI36
NG_008087.1:g.12058_12063del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000407540.8:c.790+107_790+112del MANE Select	ENSP00000383894.3:n.790+107_790+112del
ENST00000407540.7:c.790+107_790+112del	ENSP00000383894.3:n.790+107_790+112del
ENST00000421259.2:c.790+107_790+112del	ENSP00000398753.2:n.790+107_790+112del
NM_002381.4:c.790+107_790+112del	NP_002372.1:n.790+107_790+112del
NM_002381.5:c.790+107_790+112del MANE Select	NP_002372.1:n.790+107_790+112del