Canonical Allele Identifier: CA994237873

Gene: COMP

Linked Data

• gnomAD v3: 19-18787880-TTCTTTCTTTCTTTCTTTC-T
• gnomAD v4: 19-18787880-TTCTTTCTTTCTTTCTTTC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.18787882_18787899del , CM000681.2:g.18787882_18787899del	GRCh38
NC_000019.9:g.18898691_18898708del , CM000681.1:g.18898691_18898708del	GRCh37
NC_000019.8:g.18759691_18759708del	NCBI36
NG_007070.1:g.8408_8425del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000222271.7:c.976-248_976-231del MANE Select	ENSP00000222271.2:n.976-248_976-231del
ENST00000222271.6:c.976-248_976-231del	ENSP00000222271.2:n.976-248_976-231del
ENST00000425807.1:c.817-248_817-231del	ENSP00000403792.1:n.817-248_817-231del
ENST00000542601.6:c.877-248_877-231del	ENSP00000439156.2:n.877-248_877-231del
NM_000095.2:c.976-248_976-231del	NP_000086.2:n.976-248_976-231del
NM_000095.3:c.976-248_976-231del MANE Select	NP_000086.2:n.976-248_976-231del