Canonical Allele Identifier: CA658656726

Gene: COL1A1

Linked Data

• ClinVar Variation Id: 456780
• ClinVar RCV Id: RCV000540153
• dbSNP Id: rs1555575086
• MyVariant Identifiers: chr17:g.48276671del (hg19) ; chr17:g.50199310del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50199310del , CM000679.2:g.50199310del	GRCh38
NC_000017.10:g.48276671del , CM000679.1:g.48276671del	GRCh37
NC_000017.9:g.45631670del	NCBI36
NG_007400.1:g.7330del , LRG_1:g.7330del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225964.10:c.387del MANE Select	ENSP00000225964.6:p.Gly130AlafsTer?
ENST00000225964.9:c.387del	ENSP00000225964.5:p.Gly130AlafsTer?
ENST00000474644.1:n.608del
ENST00000507689.1:c.441del	ENSP00000460459.1:p.Gly148AlafsTer?
NM_000088.3:c.387del , LRG_1t1:c.387del	NP_000079.2:p.Gly130AlafsTer?
XM_005257058.3:c.387del	XP_005257115.2:p.Gly130AlafsTer?
XM_005257059.3:c.387del	XP_005257116.2:p.Gly130AlafsTer?
XM_011524341.1:c.387del	XP_011522643.1:p.Gly130AlafsTer?
XM_005257058.4:c.387del	XP_005257115.2:p.Gly130AlafsTer?
XM_005257059.4:c.387del	XP_005257116.2:p.Gly130AlafsTer?
NM_000088.4:c.387del MANE Select	NP_000079.2:p.Gly130AlafsTer?