Canonical Allele Identifier: CA632375805
Gene: COMP HGNC NCBI

Linked Data

dbSNP Id: rs1320706686
gnomAD v2: 19-18898683-C-CTT
gnomAD v3: 19-18787874-C-CTT
gnomAD v4: 19-18787874-C-CTT
MyVariant Identifiers: chr19:g.18898683_18898684insTT (hg19) chr19:g.18787874_18787875insTT (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.18787876_18787877dup , CM000681.2:g.18787876_18787877dup GRCh38
NC_000019.9:g.18898685_18898686dup , CM000681.1:g.18898685_18898686dup GRCh37
NC_000019.8:g.18759685_18759686dup NCBI36
NG_007070.1:g.8430_8431dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000222271.7:c.976-226_976-225dup MANE Select ENSP00000222271.2:n.976-226_976-225dup
ENST00000222271.6:c.976-226_976-225dup ENSP00000222271.2:n.976-226_976-225dup
ENST00000425807.1:c.817-226_817-225dup ENSP00000403792.1:n.817-226_817-225dup
ENST00000542601.6:c.877-226_877-225dup ENSP00000439156.2:n.877-226_877-225dup
NM_000095.2:c.976-226_976-225dup NP_000086.2:n.976-226_976-225dup
NM_000095.3:c.976-226_976-225dup MANE Select NP_000086.2:n.976-226_976-225dup
Search 100 bp 5'
Search 100 bp 3'