Canonical Allele Identifier: CA994238002
Gene: COMP HGNC NCBI

Linked Data

gnomAD v3: 19-18787906-CTTTCTTTCTTTT-C
gnomAD v4: 19-18787906-CTTTCTTTCTTTT-C
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.18787910_18787921del , CM000681.2:g.18787910_18787921del GRCh38
NC_000019.9:g.18898719_18898730del , CM000681.1:g.18898719_18898730del GRCh37
NC_000019.8:g.18759719_18759730del NCBI36
NG_007070.1:g.8388_8399del

Transcript Alleles

HGVS Amino-acid Change
ENST00000222271.7:c.976-268_976-257del MANE Select ENSP00000222271.2:n.976-268_976-257del
ENST00000222271.6:c.976-268_976-257del ENSP00000222271.2:n.976-268_976-257del
ENST00000425807.1:c.817-268_817-257del ENSP00000403792.1:n.817-268_817-257del
ENST00000542601.6:c.877-268_877-257del ENSP00000439156.2:n.877-268_877-257del
NM_000095.2:c.976-268_976-257del NP_000086.2:n.976-268_976-257del
NM_000095.3:c.976-268_976-257del MANE Select NP_000086.2:n.976-268_976-257del
Search 100 bp 5'
Search 100 bp 3'