Canonical Allele Identifier: CA994237961

Gene: COMP

Linked Data

• dbSNP Id: rs2055180996
• gnomAD v3: 19-18787899-TTTCTTTCTTTCTTTC-T
• gnomAD v4: 19-18787899-TTTCTTTCTTTCTTTC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.18787902_18787916del , CM000681.2:g.18787902_18787916del	GRCh38
NC_000019.9:g.18898711_18898725del , CM000681.1:g.18898711_18898725del	GRCh37
NC_000019.8:g.18759711_18759725del	NCBI36
NG_007070.1:g.8392_8406del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000222271.7:c.976-264_976-250del MANE Select	ENSP00000222271.2:n.976-264_976-250del
ENST00000222271.6:c.976-264_976-250del	ENSP00000222271.2:n.976-264_976-250del
ENST00000425807.1:c.817-264_817-250del	ENSP00000403792.1:n.817-264_817-250del
ENST00000542601.6:c.877-264_877-250del	ENSP00000439156.2:n.877-264_877-250del
NM_000095.2:c.976-264_976-250del	NP_000086.2:n.976-264_976-250del
NM_000095.3:c.976-264_976-250del MANE Select	NP_000086.2:n.976-264_976-250del