Canonical Allele Identifier: CA2583622632

Gene: COMP

Linked Data

• gnomAD v4: 19-18787560-TC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.18787561del , CM000681.2:g.18787561del	GRCh38
NC_000019.9:g.18898370del , CM000681.1:g.18898370del	GRCh37
NC_000019.8:g.18759370del	NCBI36
NG_007070.1:g.8745del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000222271.7:c.1065del MANE Select	ENSP00000222271.2:p.Asn356ThrfsTer?
ENST00000222271.6:c.1065del	ENSP00000222271.2:p.Asn356ThrfsTer?
ENST00000425807.1:c.906del	ENSP00000403792.1:p.Asn303ThrfsTer?
ENST00000542601.6:c.966del	ENSP00000439156.2:p.Asn323ThrfsTer?
NM_000095.2:c.1065del	NP_000086.2:p.Asn356ThrfsTer?
NM_000095.3:c.1065del MANE Select	NP_000086.2:p.Asn356ThrfsTer?