Canonical Allele Identifier: CA2583622560

Gene: COMP

Linked Data

• gnomAD v4: 19-18787368-A-AGGGCGCCCTGGACCAAAGACCATGGTG

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.18787377_18787378insGGACCAAAGACCATGGTGGGGCGCCCT , CM000681.2:g.18787377_18787378insGGACCAAAGACCATGGTGGGGCGCCCT	GRCh38
NC_000019.9:g.18898186_18898187insGGACCAAAGACCATGGTGGGGCGCCCT , CM000681.1:g.18898186_18898187insGGACCAAAGACCATGGTGGGGCGCCCT	GRCh37
NC_000019.8:g.18759186_18759187insGGACCAAAGACCATGGTGGGGCGCCCT	NCBI36
NG_007070.1:g.8937_8938insCACCATGGTCTTTGGTCCAGGGCGCCC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000222271.7:c.1135+122_1135+123insCACCATGGTCTTTGGTCCAGGGCGCCC MANE Select	ENSP00000222271.2:n.1135+122_1135+123insCACCATGGTCTTTGGTCCAGG...
ENST00000222271.6:c.1135+122_1135+123insCACCATGGTCTTTGGTCCAGGGCGCCC	ENSP00000222271.2:n.1135+122_1135+123insCACCATGGTCTTTGGTCCAGG...
ENST00000425807.1:c.976+122_976+123insCACCATGGTCTTTGGTCCAGGGCGCCC	ENSP00000403792.1:n.976+122_976+123insCACCATGGTCTTTGGTCCAGGGC...
ENST00000542601.6:c.1036+122_1036+123insCACCATGGTCTTTGGTCCAGGGCGCCC	ENSP00000439156.2:n.1036+122_1036+123insCACCATGGTCTTTGGTCCAGG...
NM_000095.2:c.1135+122_1135+123insCACCATGGTCTTTGGTCCAGGGCGCCC	NP_000086.2:n.1135+122_1135+123insCACCATGGTCTTTGGTCCAGGGCGCCC...
NM_000095.3:c.1135+122_1135+123insCACCATGGTCTTTGGTCCAGGGCGCCC MANE Select	NP_000086.2:n.1135+122_1135+123insCACCATGGTCTTTGGTCCAGGGCGCCC...