Canonical Allele Identifier: CA306256970

Gene: COMP

Linked Data

• dbSNP Id: rs56093208
• gnomAD v3: 19-18787864-C-CTTTTTCTTTTTCTTTCTT
• gnomAD v4: 19-18787864-C-CTTTTTCTTTTTCTTTCTT
• MyVariant Identifiers: chr19:g.18898674_18898675insTTTTCTTTTTCTTTCTTT (hg19) ; chr19:g.18898673_18898674insTTTTTCTTTTTCTTTCTT (hg19) ; chr19:g.18787865_18787866insTTTTCTTTTTCTTTCTTT (hg38) ; chr19:g.18787864_18787865insTTTTTCTTTTTCTTTCTT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.18787865_18787866insTTTTCTTTTTCTTTCTTT , CM000681.2:g.18787865_18787866insTTTTCTTTTTCTTTCTTT	GRCh38
NC_000019.9:g.18898674_18898675insTTTTCTTTTTCTTTCTTT , CM000681.1:g.18898674_18898675insTTTTCTTTTTCTTTCTTT	GRCh37
NC_000019.8:g.18759674_18759675insTTTTCTTTTTCTTTCTTT	NCBI36
NG_007070.1:g.8441_8442insAAGAAAGAAAAAGAAAAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000222271.7:c.976-215_976-214insAAGAAAGAAAAAGAAAAA MANE Select	ENSP00000222271.2:n.976-215_976-214insAAGAAAGAAAAAGAAAAA
ENST00000222271.6:c.976-215_976-214insAAGAAAGAAAAAGAAAAA	ENSP00000222271.2:n.976-215_976-214insAAGAAAGAAAAAGAAAAA
ENST00000425807.1:c.817-215_817-214insAAGAAAGAAAAAGAAAAA	ENSP00000403792.1:n.817-215_817-214insAAGAAAGAAAAAGAAAAA
ENST00000542601.6:c.877-215_877-214insAAGAAAGAAAAAGAAAAA	ENSP00000439156.2:n.877-215_877-214insAAGAAAGAAAAAGAAAAA
NM_000095.2:c.976-215_976-214insAAGAAAGAAAAAGAAAAA	NP_000086.2:n.976-215_976-214insAAGAAAGAAAAAGAAAAA
NM_000095.3:c.976-215_976-214insAAGAAAGAAAAAGAAAAA MANE Select	NP_000086.2:n.976-215_976-214insAAGAAAGAAAAAGAAAAA