Canonical Allele Identifier: CA783973353
Gene: COMP HGNC NCBI

Linked Data

dbSNP Id: rs56093208
gnomAD v3: 19-18787864-C-CTTTTTCTTTCTCTT
gnomAD v4: 19-18787864-C-CTTTTTCTTTCTCTT
MyVariant Identifiers: chr19:g.18898673_18898674insTTTTTCTTTCTCTT (hg19) chr19:g.18787864_18787865insTTTTTCTTTCTCTT (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.18787865_18787866insTTTTCTTTCTCTTT , CM000681.2:g.18787865_18787866insTTTTCTTTCTCTTT GRCh38
NC_000019.9:g.18898674_18898675insTTTTCTTTCTCTTT , CM000681.1:g.18898674_18898675insTTTTCTTTCTCTTT GRCh37
NC_000019.8:g.18759674_18759675insTTTTCTTTCTCTTT NCBI36
NG_007070.1:g.8441_8442insAAGAGAAAGAAAAA

Transcript Alleles

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