Canonical Allele Identifier: CA2326525465
Gene: COMP HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.18785927_18785945delinsTGGCCCCGCCCCCACCGCA , CM000681.2:g.18785927_18785945delinsTGGCCCCGCCCCCACCGCA GRCh38
NC_000019.9:g.18896737_18896755delinsTGGCCCCGCCCCCACCGCA , CM000681.1:g.18896737_18896755delinsTGGCCCCGCCCCCACCGCA GRCh37
NC_000019.8:g.18757737_18757755delinsTGGCCCCGCCCCCACCGCA NCBI36
NG_007070.1:g.10360_10378delinsTGCGGTGGGGGCGGGGCCA

Transcript Alleles

HGVS Amino-acid Change
ENST00000222271.7:c.1489+20_1489+38delinsTGCGGTGGGGGCGGGGCCA MANE Select ENSP00000222271.2:n.1489+20_1489+38delinsTGCGGTGGGGGCGGGGCCA
ENST00000222271.6:c.1489+20_1489+38delinsTGCGGTGGGGGCGGGGCCA ENSP00000222271.2:n.1489+20_1489+38delinsTGCGGTGGGGGCGGGGCCA
ENST00000425807.1:c.1330+20_1330+38delinsTGCGGTGGGGGCGGGGCCA ENSP00000403792.1:n.1330+20_1330+38delinsTGCGGTGGGGGCGGGGCCA
ENST00000542601.6:c.1390+20_1390+38delinsTGCGGTGGGGGCGGGGCCA ENSP00000439156.2:n.1390+20_1390+38delinsTGCGGTGGGGGCGGGGCCA
NM_000095.2:c.1489+20_1489+38delinsTGCGGTGGGGGCGGGGCCA NP_000086.2:n.1489+20_1489+38delinsTGCGGTGGGGGCGGGGCCA
NM_000095.3:c.1489+20_1489+38delinsTGCGGTGGGGGCGGGGCCA MANE Select NP_000086.2:n.1489+20_1489+38delinsTGCGGTGGGGGCGGGGCCA