Canonical Allele Identifier: CA994237791

Gene: COMP

Linked Data

• dbSNP Id: rs764518645
• gnomAD v3: 19-18787870-C-CTTTTTCTTTTTCTTTTTCTT
• gnomAD v4: 19-18787870-C-CTTTTTCTTTTTCTTTTTCTT

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.18787873_18787874insTTCTTTTTCTTTTTCTTTTT , CM000681.2:g.18787873_18787874insTTCTTTTTCTTTTTCTTTTT	GRCh38
NC_000019.9:g.18898682_18898683insTTCTTTTTCTTTTTCTTTTT , CM000681.1:g.18898682_18898683insTTCTTTTTCTTTTTCTTTTT	GRCh37
NC_000019.8:g.18759682_18759683insTTCTTTTTCTTTTTCTTTTT	NCBI36
NG_007070.1:g.8435_8436insAAGAAAAAGAAAAAGAAAAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000222271.7:c.976-221_976-220insAAGAAAAAGAAAAAGAAAAA MANE Select	ENSP00000222271.2:n.976-221_976-220insAAGAAAAAGAAAAAGAAAAA
ENST00000222271.6:c.976-221_976-220insAAGAAAAAGAAAAAGAAAAA	ENSP00000222271.2:n.976-221_976-220insAAGAAAAAGAAAAAGAAAAA
ENST00000425807.1:c.817-221_817-220insAAGAAAAAGAAAAAGAAAAA	ENSP00000403792.1:n.817-221_817-220insAAGAAAAAGAAAAAGAAAAA
ENST00000542601.6:c.877-221_877-220insAAGAAAAAGAAAAAGAAAAA	ENSP00000439156.2:n.877-221_877-220insAAGAAAAAGAAAAAGAAAAA
NM_000095.2:c.976-221_976-220insAAGAAAAAGAAAAAGAAAAA	NP_000086.2:n.976-221_976-220insAAGAAAAAGAAAAAGAAAAA
NM_000095.3:c.976-221_976-220insAAGAAAAAGAAAAAGAAAAA MANE Select	NP_000086.2:n.976-221_976-220insAAGAAAAAGAAAAAGAAAAA