Canonical Allele Identifier: CA2583621100
Gene: COMP HGNC NCBI

Linked Data

gnomAD v4: 19-18783039-T-TGGCCCTC
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.18783043_18783049dup , CM000681.2:g.18783043_18783049dup GRCh38
NC_000019.9:g.18893853_18893859dup , CM000681.1:g.18893853_18893859dup GRCh37
NC_000019.8:g.18754853_18754859dup NCBI36
NG_007070.1:g.13259_13265dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000222271.7:c.2227+8_2227+14dup MANE Select ENSP00000222271.2:n.2227+8_2227+14dup
ENST00000222271.6:c.2227+8_2227+14dup ENSP00000222271.2:n.2227+8_2227+14dup
ENST00000425807.1:c.2068+8_2068+14dup ENSP00000403792.1:n.2068+8_2068+14dup
ENST00000542601.6:c.2128+8_2128+14dup ENSP00000439156.2:n.2128+8_2128+14dup
NM_000095.2:c.2227+8_2227+14dup NP_000086.2:n.2227+8_2227+14dup
NM_000095.3:c.2227+8_2227+14dup MANE Select NP_000086.2:n.2227+8_2227+14dup
Search 100 bp 5'
Search 100 bp 3'