Canonical Allele Identifier: CA632375777
Gene: COMP HGNC NCBI

Linked Data

dbSNP Id: rs1568555757
gnomAD v2: 19-18898675-C-CTTTTTCTT
gnomAD v3: 19-18787866-C-CTTTTTCTT
gnomAD v4: 19-18787866-C-CTTTTTCTT
MyVariant Identifiers: chr19:g.18898675_18898676insTTTTTCTT (hg19) chr19:g.18787866_18787867insTTTTTCTT (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.18787869_18787870insTTCTTTTT , CM000681.2:g.18787869_18787870insTTCTTTTT GRCh38
NC_000019.9:g.18898678_18898679insTTCTTTTT , CM000681.1:g.18898678_18898679insTTCTTTTT GRCh37
NC_000019.8:g.18759678_18759679insTTCTTTTT NCBI36
NG_007070.1:g.8439_8440insAAGAAAAA

Transcript Alleles

HGVS Amino-acid Change
ENST00000222271.7:c.976-217_976-216insAAGAAAAA MANE Select ENSP00000222271.2:n.976-217_976-216insAAGAAAAA
ENST00000222271.6:c.976-217_976-216insAAGAAAAA ENSP00000222271.2:n.976-217_976-216insAAGAAAAA
ENST00000425807.1:c.817-217_817-216insAAGAAAAA ENSP00000403792.1:n.817-217_817-216insAAGAAAAA
ENST00000542601.6:c.877-217_877-216insAAGAAAAA ENSP00000439156.2:n.877-217_877-216insAAGAAAAA
NM_000095.2:c.976-217_976-216insAAGAAAAA NP_000086.2:n.976-217_976-216insAAGAAAAA
NM_000095.3:c.976-217_976-216insAAGAAAAA MANE Select NP_000086.2:n.976-217_976-216insAAGAAAAA
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