Canonical Allele Identifier: CA2583621545

Gene: COMP

Linked Data

• gnomAD v4: 19-18784829-AGGGT-A

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.18784830_18784833del , CM000681.2:g.18784830_18784833del	GRCh38
NC_000019.9:g.18895640_18895643del , CM000681.1:g.18895640_18895643del	GRCh37
NC_000019.8:g.18756640_18756643del	NCBI36
NG_007070.1:g.11472_11475del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000222271.7:c.1914+63_1914+66del MANE Select	ENSP00000222271.2:n.1914+63_1914+66del
ENST00000222271.6:c.1914+63_1914+66del	ENSP00000222271.2:n.1914+63_1914+66del
ENST00000425807.1:c.1755+63_1755+66del	ENSP00000403792.1:n.1755+63_1755+66del
ENST00000542601.6:c.1815+63_1815+66del	ENSP00000439156.2:n.1815+63_1815+66del
NM_000095.2:c.1914+63_1914+66del	NP_000086.2:n.1914+63_1914+66del
NM_000095.3:c.1914+63_1914+66del MANE Select	NP_000086.2:n.1914+63_1914+66del