Canonical Allele Identifier: CA994237726
Gene: COMP HGNC NCBI

Linked Data

gnomAD v3: 19-18787864-C-CTTTTTCTTCTTCTT
gnomAD v4: 19-18787864-C-CTTTTTCTTCTTCTT
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.18787865_18787866insTTTTCTTCTTCTTT , CM000681.2:g.18787865_18787866insTTTTCTTCTTCTTT GRCh38
NC_000019.9:g.18898674_18898675insTTTTCTTCTTCTTT , CM000681.1:g.18898674_18898675insTTTTCTTCTTCTTT GRCh37
NC_000019.8:g.18759674_18759675insTTTTCTTCTTCTTT NCBI36
NG_007070.1:g.8441_8442insAAGAAGAAGAAAAA

Transcript Alleles

HGVS Amino-acid Change
ENST00000222271.7:c.976-215_976-214insAAGAAGAAGAAAAA MANE Select ENSP00000222271.2:n.976-215_976-214insAAGAAGAAGAAAAA
ENST00000222271.6:c.976-215_976-214insAAGAAGAAGAAAAA ENSP00000222271.2:n.976-215_976-214insAAGAAGAAGAAAAA
ENST00000425807.1:c.817-215_817-214insAAGAAGAAGAAAAA ENSP00000403792.1:n.817-215_817-214insAAGAAGAAGAAAAA
ENST00000542601.6:c.877-215_877-214insAAGAAGAAGAAAAA ENSP00000439156.2:n.877-215_877-214insAAGAAGAAGAAAAA
NM_000095.2:c.976-215_976-214insAAGAAGAAGAAAAA NP_000086.2:n.976-215_976-214insAAGAAGAAGAAAAA
NM_000095.3:c.976-215_976-214insAAGAAGAAGAAAAA MANE Select NP_000086.2:n.976-215_976-214insAAGAAGAAGAAAAA
Search 100 bp 5'
Search 100 bp 3'