Canonical Allele Identifier: CA632375782
Gene: COMP HGNC NCBI

Linked Data

dbSNP Id: rs1568555767
gnomAD v2: 19-18898676-TTTCTTTCTTTCTTTCTTTCTTTC-T
gnomAD v3: 19-18787867-TTTCTTTCTTTCTTTCTTTCTTTC-T
gnomAD v4: 19-18787867-TTTCTTTCTTTCTTTCTTTCTTTC-T
MyVariant Identifiers: chr19:g.18898677_18898699del (hg19) chr19:g.18787868_18787890del (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.18787870_18787892del , CM000681.2:g.18787870_18787892del GRCh38
NC_000019.9:g.18898679_18898701del , CM000681.1:g.18898679_18898701del GRCh37
NC_000019.8:g.18759679_18759701del NCBI36
NG_007070.1:g.8416_8438del

Transcript Alleles

HGVS Amino-acid Change
ENST00000222271.7:c.976-240_976-218del MANE Select ENSP00000222271.2:n.976-240_976-218del
ENST00000222271.6:c.976-240_976-218del ENSP00000222271.2:n.976-240_976-218del
ENST00000425807.1:c.817-240_817-218del ENSP00000403792.1:n.817-240_817-218del
ENST00000542601.6:c.877-240_877-218del ENSP00000439156.2:n.877-240_877-218del
NM_000095.2:c.976-240_976-218del NP_000086.2:n.976-240_976-218del
NM_000095.3:c.976-240_976-218del MANE Select NP_000086.2:n.976-240_976-218del
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