Canonical Allele Identifier: CA994238011

Gene: COMP

Linked Data

• gnomAD v3: 19-18787909-TCTTTCTTTTTTTTGAGACAGAGTCTTG-T
• gnomAD v4: 19-18787909-TCTTTCTTTTTTTTGAGACAGAGTCTTG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.18787912_18787938del , CM000681.2:g.18787912_18787938del	GRCh38
NC_000019.9:g.18898721_18898747del , CM000681.1:g.18898721_18898747del	GRCh37
NC_000019.8:g.18759721_18759747del	NCBI36
NG_007070.1:g.8370_8396del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000222271.7:c.975+276_976-260del MANE Select	ENSP00000222271.2:n.975+276_976-260del
ENST00000222271.6:c.975+276_976-260del	ENSP00000222271.2:n.975+276_976-260del
ENST00000425807.1:c.816+276_817-260del	ENSP00000403792.1:n.816+276_817-260del
ENST00000542601.6:c.876+276_877-260del	ENSP00000439156.2:n.876+276_877-260del
NM_000095.2:c.975+276_976-260del	NP_000086.2:n.975+276_976-260del
NM_000095.3:c.975+276_976-260del MANE Select	NP_000086.2:n.975+276_976-260del