Canonical Allele Identifier: CA2583621554
Gene: COMP HGNC NCBI

Linked Data

gnomAD v4: 19-18784844-G-T
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.18784844G>T , CM000681.2:g.18784844G>T GRCh38
NC_000019.9:g.18895654G>T , CM000681.1:g.18895654G>T GRCh37
NC_000019.8:g.18756654G>T NCBI36
NG_007070.1:g.11461C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000222271.7:c.1914+52C>A MANE Select ENSP00000222271.2:n.1914+52C>A
ENST00000222271.6:c.1914+52C>A ENSP00000222271.2:n.1914+52C>A
ENST00000425807.1:c.1755+52C>A ENSP00000403792.1:n.1755+52C>A
ENST00000542601.6:c.1815+52C>A ENSP00000439156.2:n.1815+52C>A
NM_000095.2:c.1914+52C>A NP_000086.2:n.1914+52C>A
NM_000095.3:c.1914+52C>A MANE Select NP_000086.2:n.1914+52C>A
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