Canonical Allele Identifier: CA783973345
Gene: COMP HGNC NCBI

Linked Data

dbSNP Id: rs1555791611
gnomAD v3: 19-18787864-C-CTCTTTCTT
gnomAD v4: 19-18787864-C-CTCTTTCTT
MyVariant Identifiers: chr19:g.18898673_18898674insTCTTTCTT (hg19) chr19:g.18787864_18787865insTCTTTCTT (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.18787910_18787917dup , CM000681.2:g.18787910_18787917dup GRCh38
NC_000019.9:g.18898719_18898726dup , CM000681.1:g.18898719_18898726dup GRCh37
NC_000019.8:g.18759719_18759726dup NCBI36
NG_007070.1:g.8434_8441dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000222271.7:c.976-222_976-215dup MANE Select ENSP00000222271.2:n.976-222_976-215dup
ENST00000222271.6:c.976-222_976-215dup ENSP00000222271.2:n.976-222_976-215dup
ENST00000425807.1:c.817-222_817-215dup ENSP00000403792.1:n.817-222_817-215dup
ENST00000542601.6:c.877-222_877-215dup ENSP00000439156.2:n.877-222_877-215dup
NM_000095.2:c.976-222_976-215dup NP_000086.2:n.976-222_976-215dup
NM_000095.3:c.976-222_976-215dup MANE Select NP_000086.2:n.976-222_976-215dup
Search 100 bp 5'
Search 100 bp 3'