Canonical Allele Identifier: CA632375731
Gene: COMP HGNC NCBI

Linked Data

dbSNP Id: rs2055175199
gnomAD v2: 19-18898256-G-GT
gnomAD v3: 19-18787447-G-GT
gnomAD v4: 19-18787447-G-GT
MyVariant Identifiers: chr19:g.18898256_18898257insT (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.18787448dup , CM000681.2:g.18787448dup GRCh38
NC_000019.9:g.18898257dup , CM000681.1:g.18898257dup GRCh37
NC_000019.8:g.18759257dup NCBI36
NG_007070.1:g.8858dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000222271.7:c.1135+43dup MANE Select ENSP00000222271.2:n.1135+43dup
ENST00000222271.6:c.1135+43dup ENSP00000222271.2:n.1135+43dup
ENST00000425807.1:c.976+43dup ENSP00000403792.1:n.976+43dup
ENST00000542601.6:c.1036+43dup ENSP00000439156.2:n.1036+43dup
NM_000095.2:c.1135+43dup NP_000086.2:n.1135+43dup
NM_000095.3:c.1135+43dup MANE Select NP_000086.2:n.1135+43dup
Search 100 bp 5'
Search 100 bp 3'