Canonical Allele Identifier: CA994238009

Gene: COMP

Linked Data

• dbSNP Id: rs2055181218
• gnomAD v3: 19-18787907-TTTCTTTC-T
• gnomAD v4: 19-18787907-TTTCTTTC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.18787910_18787916del , CM000681.2:g.18787910_18787916del	GRCh38
NC_000019.9:g.18898719_18898725del , CM000681.1:g.18898719_18898725del	GRCh37
NC_000019.8:g.18759719_18759725del	NCBI36
NG_007070.1:g.8392_8398del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000222271.7:c.976-264_976-258del MANE Select	ENSP00000222271.2:n.976-264_976-258del
ENST00000222271.6:c.976-264_976-258del	ENSP00000222271.2:n.976-264_976-258del
ENST00000425807.1:c.817-264_817-258del	ENSP00000403792.1:n.817-264_817-258del
ENST00000542601.6:c.877-264_877-258del	ENSP00000439156.2:n.877-264_877-258del
NM_000095.2:c.976-264_976-258del	NP_000086.2:n.976-264_976-258del
NM_000095.3:c.976-264_976-258del MANE Select	NP_000086.2:n.976-264_976-258del