Canonical Allele Identifier: CA2326526478
Gene: COMP HGNC NCBI

Linked Data

dbSNP Id: rs56093208

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.18787865_18787866insTTTTCTTTCTCTTTCTTT , CM000681.2:g.18787865_18787866insTTTTCTTTCTCTTTCTTT GRCh38
NC_000019.9:g.18898674_18898675insTTTTCTTTCTCTTTCTTT , CM000681.1:g.18898674_18898675insTTTTCTTTCTCTTTCTTT GRCh37
NC_000019.8:g.18759674_18759675insTTTTCTTTCTCTTTCTTT NCBI36
NG_007070.1:g.8441_8442insAAGAAAGAGAAAGAAAAA

Transcript Alleles

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