Canonical Allele Identifier: CA2493007744

Gene: MATN3

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.20005595_20005596delinsCA , CM000664.2:g.20005595_20005596delinsCA	GRCh38
NC_000002.11:g.20205356_20205357delinsCA , CM000664.1:g.20205356_20205357delinsCA	GRCh37
NC_000002.10:g.20068837_20068838delinsCA	NCBI36
NG_008087.1:g.12099_12100delinsTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000407540.8:c.790+148_790+149delinsTG MANE Select	ENSP00000383894.3:n.790+148_790+149delinsTG
ENST00000407540.7:c.790+148_790+149delinsTG	ENSP00000383894.3:n.790+148_790+149delinsTG
ENST00000421259.2:c.790+148_790+149delinsTG	ENSP00000398753.2:n.790+148_790+149delinsTG
NM_002381.4:c.790+148_790+149delinsTG	NP_002372.1:n.790+148_790+149delinsTG
NM_002381.5:c.790+148_790+149delinsTG MANE Select	NP_002372.1:n.790+148_790+149delinsTG