Canonical Allele Identifier: CA2695228433

Gene: COMP

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.18786101_18786102insCCAGGGACA , CM000681.2:g.18786101_18786102insCCAGGGACA	GRCh38
NC_000019.9:g.18896911_18896912insCCAGGGACA , CM000681.1:g.18896911_18896912insCCAGGGACA	GRCh37
NC_000019.8:g.18757911_18757912insCCAGGGACA	NCBI36
NG_007070.1:g.10203_10204insTGTCCCTGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000222271.7:c.1352_1353insTGTCCCTGG MANE Select	ENSP00000222271.2:p.Val451_Pro452insValProGly
ENST00000222271.6:c.1352_1353insTGTCCCTGG	ENSP00000222271.2:p.Val451_Pro452insValProGly
ENST00000425807.1:c.1193_1194insTGTCCCTGG	ENSP00000403792.1:p.Val398_Pro399insValProGly
ENST00000542601.6:c.1253_1254insTGTCCCTGG	ENSP00000439156.2:p.Val418_Pro419insValProGly
NM_000095.2:c.1352_1353insTGTCCCTGG	NP_000086.2:p.Val451_Pro452insValProGly
NM_000095.3:c.1352_1353insTGTCCCTGG MANE Select	NP_000086.2:p.Val451_Pro452insValProGly