Canonical Allele Identifier: CA1139768929

Gene: COL1A1

Linked Data

• ClinVar Variation Id: 1803138
• ClinVar RCV Id: RCV002466808

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50193008del , CM000679.2:g.50193008del	GRCh38
NC_000017.10:g.48270369del , CM000679.1:g.48270369del	GRCh37
NC_000017.9:g.45625368del	NCBI36
NG_007400.1:g.13636del , LRG_1:g.13636del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225964.10:c.1811del MANE Select	ENSP00000225964.6:p.Pro604LeufsTer?
ENST00000225964.9:c.1811del	ENSP00000225964.5:p.Pro604LeufsTer?
ENST00000476387.1:n.160del
NM_000088.3:c.1811del , LRG_1t1:c.1811del	NP_000079.2:p.Pro604LeufsTer?
XM_005257058.3:c.1811del	XP_005257115.2:p.Pro604LeufsTer?
XM_005257059.3:c.958-311del	XP_005257116.2:n.958-311del
XM_011524341.1:c.1613del	XP_011522643.1:p.Pro538LeufsTer?
XM_005257058.4:c.1811del	XP_005257115.2:p.Pro604LeufsTer?
XM_005257059.4:c.958-311del	XP_005257116.2:n.958-311del
NM_000088.4:c.1811del MANE Select	NP_000079.2:p.Pro604LeufsTer?