Allele Registry

Canonical Allele Identifier: CA342697

Gene: COL9A2 HGNC NCBI

Linked Data - Variant Effect Evidence

MyVariant.info:

GRCh38 chr1:g.40309934_40309941del

GRCh37 chr1:g.40775606_40775613del

Linked Data - NCBI & NCI

ClinVar RCV:

RCV000022493

ClinVar Variation:

29645

dbSNP:

606231376

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.40309939_40309946del , CM000663.2:g.40309939_40309946del	GRCh38
NC_000001.10:g.40775611_40775618del , CM000663.1:g.40775611_40775618del	GRCh37
NC_000001.9:g.40548198_40548205del	NCBI36
NG_008031.1:g.12327_12334del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000372748.8:c.843_846+4del
ENST00000372748.7:c.843_846+4del
ENST00000482722.5:n.1146_1149+4del
ENST00000488463.5:n.894_897+4del
NM_001852.3:c.843_846+4del
XM_006710365.2:c.843_846+4del
XM_011540714.1:c.855_858+4del
XM_011540715.1:c.573_576+4del
XM_011540716.1:c.573_576+4del
XM_011540717.1:c.300_303+4del
XM_011540718.1:c.855_858+4del
XM_006710365.3:c.843_846+4del
XM_011540715.2:c.573_576+4del
XM_011540716.2:c.573_576+4del
XM_011540717.2:c.300_303+4del
XM_017000332.1:c.855_858+4del
XM_017000333.1:c.561_564+4del
NM_001852.4:c.843_846+4del

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