Canonical Allele Identifier: CA632626626
Gene: COMP HGNC NCBI

Linked Data

dbSNP Id: rs773226781
gnomAD v2: 19-18896737-T-TGGCCCCGCCCCCACCGCA
gnomAD v3: 19-18785927-T-TGGCCCCGCCCCCACCGCA
gnomAD v4: 19-18785927-T-TGGCCCCGCCCCCACCGCA
MyVariant Identifiers: chr19:g.18896755_18896756insGGCCCCGCCCCCACCGCA (hg19) chr19:g.18896737_18896738insGGCCCCGCCCCCACCGCA (hg19) chr19:g.18785927_18785928insGGCCCCGCCCCCACCGCA (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.18785940_18785957dup , CM000681.2:g.18785940_18785957dup GRCh38
NC_000019.9:g.18896750_18896767dup , CM000681.1:g.18896750_18896767dup GRCh37
NC_000019.8:g.18757750_18757767dup NCBI36
NG_007070.1:g.10360_10377dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000222271.7:c.1489+20_1489+37dup MANE Select ENSP00000222271.2:n.1489+20_1489+37dup
ENST00000222271.6:c.1489+20_1489+37dup ENSP00000222271.2:n.1489+20_1489+37dup
ENST00000425807.1:c.1330+20_1330+37dup ENSP00000403792.1:n.1330+20_1330+37dup
ENST00000542601.6:c.1390+20_1390+37dup ENSP00000439156.2:n.1390+20_1390+37dup
NM_000095.2:c.1489+20_1489+37dup NP_000086.2:n.1489+20_1489+37dup
NM_000095.3:c.1489+20_1489+37dup MANE Select NP_000086.2:n.1489+20_1489+37dup
Search 100 bp 5'
Search 100 bp 3'