Canonical Allele Identifier: CA994237763

Gene: COMP

Linked Data

• dbSNP Id: rs2055179769
• gnomAD v3: 19-18787867-TTTCTTTCTTTCTTTCTTTC-T
• gnomAD v4: 19-18787867-TTTCTTTCTTTCTTTCTTTC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.18787870_18787888del , CM000681.2:g.18787870_18787888del	GRCh38
NC_000019.9:g.18898679_18898697del , CM000681.1:g.18898679_18898697del	GRCh37
NC_000019.8:g.18759679_18759697del	NCBI36
NG_007070.1:g.8420_8438del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000222271.7:c.976-236_976-218del MANE Select	ENSP00000222271.2:n.976-236_976-218del
ENST00000222271.6:c.976-236_976-218del	ENSP00000222271.2:n.976-236_976-218del
ENST00000425807.1:c.817-236_817-218del	ENSP00000403792.1:n.817-236_817-218del
ENST00000542601.6:c.877-236_877-218del	ENSP00000439156.2:n.877-236_877-218del
NM_000095.2:c.976-236_976-218del	NP_000086.2:n.976-236_976-218del
NM_000095.3:c.976-236_976-218del MANE Select	NP_000086.2:n.976-236_976-218del