Canonical Allele Identifier: CA783973048
Gene: COMP HGNC NCBI

Linked Data

dbSNP Id: rs1324632709
gnomAD v3: 19-18787359-CTT-C
gnomAD v4: 19-18787359-CTT-C
MyVariant Identifiers: chr19:g.18898169_18898170del (hg19) chr19:g.18787360_18787361del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.18787361_18787362del , CM000681.2:g.18787361_18787362del GRCh38
NC_000019.9:g.18898170_18898171del , CM000681.1:g.18898170_18898171del GRCh37
NC_000019.8:g.18759170_18759171del NCBI36
NG_007070.1:g.8945_8946del

Transcript Alleles

HGVS Amino-acid Change
ENST00000222271.7:c.1135+130_1135+131del MANE Select ENSP00000222271.2:n.1135+130_1135+131del
ENST00000222271.6:c.1135+130_1135+131del ENSP00000222271.2:n.1135+130_1135+131del
ENST00000425807.1:c.976+130_976+131del ENSP00000403792.1:n.976+130_976+131del
ENST00000542601.6:c.1036+130_1036+131del ENSP00000439156.2:n.1036+130_1036+131del
NM_000095.2:c.1135+130_1135+131del NP_000086.2:n.1135+130_1135+131del
NM_000095.3:c.1135+130_1135+131del MANE Select NP_000086.2:n.1135+130_1135+131del
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