Canonical Allele Identifier: CA658656709

Gene: COL1A1

Linked Data

• ClinVar Variation Id: 456740
• ClinVar RCV Id: RCV000539052 ; RCV000722159
• dbSNP Id: rs72651620
• MyVariant Identifiers: chr17:g.48270168_48270171del (hg19) ; chr17:g.50192807_50192810del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50192808_50192811del , CM000679.2:g.50192808_50192811del	GRCh38
NC_000017.10:g.48270169_48270172del , CM000679.1:g.48270169_48270172del	GRCh37
NC_000017.9:g.45625168_45625171del	NCBI36
NG_007400.1:g.13830_13833del , LRG_1:g.13830_13833del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225964.10:c.1862_1865del MANE Select	ENSP00000225964.6:p.Pro621LeufsTer?
ENST00000225964.9:c.1862_1865del	ENSP00000225964.5:p.Pro621LeufsTer?
ENST00000476387.1:n.211_214del
NM_000088.3:c.1862_1865del , LRG_1t1:c.1862_1865del	NP_000079.2:p.Pro621LeufsTer?
XM_005257058.3:c.1862_1865del	XP_005257115.2:p.Pro621LeufsTer?
XM_005257059.3:c.958-117_958-114del	XP_005257116.2:n.958-117_958-114del
XM_011524341.1:c.1664_1667del	XP_011522643.1:p.Pro555LeufsTer?
XM_005257058.4:c.1862_1865del	XP_005257115.2:p.Pro621LeufsTer?
XM_005257059.4:c.958-117_958-114del	XP_005257116.2:n.958-117_958-114del
NM_000088.4:c.1862_1865del MANE Select	NP_000079.2:p.Pro621LeufsTer?