Canonical Allele Identifier: CA2326526519

Gene: COMP

Linked Data

• dbSNP Id: rs2055180407

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.18787889_18787890insTTTTTGAGACTTTCTTTCTTT , CM000681.2:g.18787889_18787890insTTTTTGAGACTTTCTTTCTTT	GRCh38
NC_000019.9:g.18898698_18898699insTTTTTGAGACTTTCTTTCTTT , CM000681.1:g.18898698_18898699insTTTTTGAGACTTTCTTTCTTT	GRCh37
NC_000019.8:g.18759698_18759699insTTTTTGAGACTTTCTTTCTTT	NCBI36
NG_007070.1:g.8428_8429insTCTCAAAAAAAAGAAAGAAAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000222271.7:c.976-228_976-227insTCTCAAAAAAAAGAAAGAAAG MANE Select	ENSP00000222271.2:n.976-228_976-227insTCTCAAAAAAAAGAAAGAAAG
ENST00000222271.6:c.976-228_976-227insTCTCAAAAAAAAGAAAGAAAG	ENSP00000222271.2:n.976-228_976-227insTCTCAAAAAAAAGAAAGAAAG
ENST00000425807.1:c.817-228_817-227insTCTCAAAAAAAAGAAAGAAAG	ENSP00000403792.1:n.817-228_817-227insTCTCAAAAAAAAGAAAGAAAG
ENST00000542601.6:c.877-228_877-227insTCTCAAAAAAAAGAAAGAAAG	ENSP00000439156.2:n.877-228_877-227insTCTCAAAAAAAAGAAAGAAAG
NM_000095.2:c.976-228_976-227insTCTCAAAAAAAAGAAAGAAAG	NP_000086.2:n.976-228_976-227insTCTCAAAAAAAAGAAAGAAAG
NM_000095.3:c.976-228_976-227insTCTCAAAAAAAAGAAAGAAAG MANE Select	NP_000086.2:n.976-228_976-227insTCTCAAAAAAAAGAAAGAAAG