Canonical Allele Identifier: CA2326526247
Gene: COMP HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.18787317_18787329delinsCCTTGCAGCCCAG , CM000681.2:g.18787317_18787329delinsCCTTGCAGCCCAG GRCh38
NC_000019.9:g.18898126_18898138delinsCCTTGCAGCCCAG , CM000681.1:g.18898126_18898138delinsCCTTGCAGCCCAG GRCh37
NC_000019.8:g.18759126_18759138delinsCCTTGCAGCCCAG NCBI36
NG_007070.1:g.8977_8989delinsCTGGGCTGCAAGG

Transcript Alleles

HGVS Amino-acid Change
ENST00000222271.7:c.1135+162_1135+174delinsCTGGGCTGCAAGG MANE Select ENSP00000222271.2:n.1135+162_1135+174delinsCTGGGCTGCAAGG
ENST00000222271.6:c.1135+162_1135+174delinsCTGGGCTGCAAGG ENSP00000222271.2:n.1135+162_1135+174delinsCTGGGCTGCAAGG
ENST00000425807.1:c.976+162_976+174delinsCTGGGCTGCAAGG ENSP00000403792.1:n.976+162_976+174delinsCTGGGCTGCAAGG
ENST00000542601.6:c.1036+162_1036+174delinsCTGGGCTGCAAGG ENSP00000439156.2:n.1036+162_1036+174delinsCTGGGCTGCAAGG
NM_000095.2:c.1135+162_1135+174delinsCTGGGCTGCAAGG NP_000086.2:n.1135+162_1135+174delinsCTGGGCTGCAAGG
NM_000095.3:c.1135+162_1135+174delinsCTGGGCTGCAAGG MANE Select NP_000086.2:n.1135+162_1135+174delinsCTGGGCTGCAAGG