Canonical Allele Identifier: CA658656720

Gene: COL1A1

Linked Data

• ClinVar Variation Id: 447146
• ClinVar RCV Id: RCV000518812
• dbSNP Id: rs1555574450
• MyVariant Identifiers: chr17:g.48274026_48274067del (hg19) ; chr17:g.50196665_50196706del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50196667_50196708del , CM000679.2:g.50196667_50196708del	GRCh38
NC_000017.10:g.48274028_48274069del , CM000679.1:g.48274028_48274069del	GRCh37
NC_000017.9:g.45629027_45629068del	NCBI36
NG_007400.1:g.9934_9975del , LRG_1:g.9934_9975del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225964.10:c.805-36_810del
ENST00000225964.9:c.805-36_810del
ENST00000495677.1:n.532-36_537del
NM_000088.3:c.805-36_810del , LRG_1t1:c.805-36_810del
XM_005257058.3:c.805-36_810del
XM_005257059.3:c.805-36_810del
XM_011524341.1:c.805-36_810del
XM_005257058.4:c.805-36_810del
XM_005257059.4:c.805-36_810del
NM_000088.4:c.805-36_810del