Canonical Allele Identifier: CA291547680

Gene: COL1A1

Linked Data

• ClinVar Variation Id: 1431197
• ClinVar RCV Id: RCV001948547
• dbSNP Id: rs67163050
• MyVariant Identifiers: chr17:g.48274595_48274596del (hg19) ; chr17:g.50197234_50197235del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50197234_50197235del , CM000679.2:g.50197234_50197235del	GRCh38
NC_000017.10:g.48274595_48274596del , CM000679.1:g.48274595_48274596del	GRCh37
NC_000017.9:g.45629594_45629595del	NCBI36
NG_007400.1:g.9405_9406del , LRG_1:g.9405_9406del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225964.10:c.697-2_697-1del MANE Select	ENSP00000225964.6:n.697-2_697-1del
ENST00000225964.9:c.697-2_697-1del	ENSP00000225964.5:n.697-2_697-1del
ENST00000495677.1:n.424-2_424-1del
NM_000088.3:c.697-2_697-1del , LRG_1t1:c.697-2_697-1del	NP_000079.2:n.697-2_697-1del
XM_005257058.3:c.697-2_697-1del	XP_005257115.2:n.697-2_697-1del
XM_005257059.3:c.697-2_697-1del	XP_005257116.2:n.697-2_697-1del
XM_011524341.1:c.697-2_697-1del	XP_011522643.1:n.697-2_697-1del
XM_005257058.4:c.697-2_697-1del	XP_005257115.2:n.697-2_697-1del
XM_005257059.4:c.697-2_697-1del	XP_005257116.2:n.697-2_697-1del
NM_000088.4:c.697-2_697-1del MANE Select	NP_000079.2:n.697-2_697-1del