Canonical Allele Identifier: CA2326526224
Gene: COMP HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.18787285_18787298delinsTTCCCTTCCAAATA , CM000681.2:g.18787285_18787298delinsTTCCCTTCCAAATA GRCh38
NC_000019.9:g.18898094_18898107delinsTTCCCTTCCAAATA , CM000681.1:g.18898094_18898107delinsTTCCCTTCCAAATA GRCh37
NC_000019.8:g.18759094_18759107delinsTTCCCTTCCAAATA NCBI36
NG_007070.1:g.9008_9021delinsTATTTGGAAGGGAA

Transcript Alleles

HGVS Amino-acid Change
ENST00000222271.7:c.1135+193_1135+206delinsTATTTGGAAGGGAA MANE Select ENSP00000222271.2:n.1135+193_1135+206delinsTATTTGGAAGGGAA
ENST00000222271.6:c.1135+193_1135+206delinsTATTTGGAAGGGAA ENSP00000222271.2:n.1135+193_1135+206delinsTATTTGGAAGGGAA
ENST00000425807.1:c.976+193_976+206delinsTATTTGGAAGGGAA ENSP00000403792.1:n.976+193_976+206delinsTATTTGGAAGGGAA
ENST00000542601.6:c.1036+193_1036+206delinsTATTTGGAAGGGAA ENSP00000439156.2:n.1036+193_1036+206delinsTATTTGGAAGGGAA
NM_000095.2:c.1135+193_1135+206delinsTATTTGGAAGGGAA NP_000086.2:n.1135+193_1135+206delinsTATTTGGAAGGGAA
NM_000095.3:c.1135+193_1135+206delinsTATTTGGAAGGGAA MANE Select NP_000086.2:n.1135+193_1135+206delinsTATTTGGAAGGGAA