Canonical Allele Identifier: CA2499224730

Gene: COL1A1

Linked Data

• ClinVar Variation Id: 1074064
• ClinVar RCV Id: RCV001387241
• dbSNP Id: rs2144565641

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50193018del , CM000679.2:g.50193018del	GRCh38
NC_000017.10:g.48270379del , CM000679.1:g.48270379del	GRCh37
NC_000017.9:g.45625378del	NCBI36
NG_007400.1:g.13622del , LRG_1:g.13622del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225964.10:c.1797del MANE Select	ENSP00000225964.6:p.Val600PhefsTer?
ENST00000225964.9:c.1797del	ENSP00000225964.5:p.Val600PhefsTer?
ENST00000476387.1:n.146del
NM_000088.3:c.1797del , LRG_1t1:c.1797del	NP_000079.2:p.Val600PhefsTer?
XM_005257058.3:c.1797del	XP_005257115.2:p.Val600PhefsTer?
XM_005257059.3:c.958-325del	XP_005257116.2:n.958-325del
XM_011524341.1:c.1599del	XP_011522643.1:p.Val534PhefsTer?
XM_005257058.4:c.1797del	XP_005257115.2:p.Val600PhefsTer?
XM_005257059.4:c.958-325del	XP_005257116.2:n.958-325del
NM_000088.4:c.1797del MANE Select	NP_000079.2:p.Val600PhefsTer?