Canonical Allele Identifier: CA783973360
Gene: COMP HGNC NCBI

Linked Data

dbSNP Id: rs56093208
gnomAD v3: 19-18787864-C-CTTTCTT
gnomAD v4: 19-18787864-C-CTTTCTT
MyVariant Identifiers: chr19:g.18898673_18898674insTTTCTT (hg19) chr19:g.18787864_18787865insTTTCTT (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.18787865_18787866insTTCTTT , CM000681.2:g.18787865_18787866insTTCTTT GRCh38
NC_000019.9:g.18898674_18898675insTTCTTT , CM000681.1:g.18898674_18898675insTTCTTT GRCh37
NC_000019.8:g.18759674_18759675insTTCTTT NCBI36
NG_007070.1:g.8441_8442insAAGAAA

Transcript Alleles

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