Canonical Allele Identifier: CA632375811
Gene: COMP HGNC NCBI

Linked Data

dbSNP Id: rs1289407474
gnomAD v2: 19-18898703-C-CTT
gnomAD v3: 19-18787894-C-CTT
gnomAD v4: 19-18787894-C-CTT
MyVariant Identifiers: chr19:g.18898703_18898704insTT (hg19) chr19:g.18787894_18787895insTT (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.18787896_18787897dup , CM000681.2:g.18787896_18787897dup GRCh38
NC_000019.9:g.18898705_18898706dup , CM000681.1:g.18898705_18898706dup GRCh37
NC_000019.8:g.18759705_18759706dup NCBI36
NG_007070.1:g.8410_8411dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000222271.7:c.976-246_976-245dup MANE Select ENSP00000222271.2:n.976-246_976-245dup
ENST00000222271.6:c.976-246_976-245dup ENSP00000222271.2:n.976-246_976-245dup
ENST00000425807.1:c.817-246_817-245dup ENSP00000403792.1:n.817-246_817-245dup
ENST00000542601.6:c.877-246_877-245dup ENSP00000439156.2:n.877-246_877-245dup
NM_000095.2:c.976-246_976-245dup NP_000086.2:n.976-246_976-245dup
NM_000095.3:c.976-246_976-245dup MANE Select NP_000086.2:n.976-246_976-245dup
Search 100 bp 5'
Search 100 bp 3'