Canonical Allele Identifier: CA2583621544
Gene: COMP HGNC NCBI

Linked Data

gnomAD v4: 19-18784829-AG-A
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.18784832del , CM000681.2:g.18784832del GRCh38
NC_000019.9:g.18895642del , CM000681.1:g.18895642del GRCh37
NC_000019.8:g.18756642del NCBI36
NG_007070.1:g.11475del

Transcript Alleles

HGVS Amino-acid Change
ENST00000222271.7:c.1914+66del MANE Select ENSP00000222271.2:n.1914+66del
ENST00000222271.6:c.1914+66del ENSP00000222271.2:n.1914+66del
ENST00000425807.1:c.1755+66del ENSP00000403792.1:n.1755+66del
ENST00000542601.6:c.1815+66del ENSP00000439156.2:n.1815+66del
NM_000095.2:c.1914+66del NP_000086.2:n.1914+66del
NM_000095.3:c.1914+66del MANE Select NP_000086.2:n.1914+66del
Search 100 bp 5'
Search 100 bp 3'