Canonical Allele Identifier: CA2573154205

Gene: COL1A1

Linked Data

• ClinVar Variation Id: 1453988
• ClinVar RCV Id: RCV001939382
• dbSNP Id: rs2144577718

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50195646_50195659del , CM000679.2:g.50195646_50195659del	GRCh38
NC_000017.10:g.48273007_48273020del , CM000679.1:g.48273007_48273020del	GRCh37
NC_000017.9:g.45628006_45628019del	NCBI36
NG_007400.1:g.10983_10996del , LRG_1:g.10983_10996del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225964.10:c.1065_1078del MANE Select	ENSP00000225964.6:p.Gly356ProfsTer4
ENST00000225964.9:c.1065_1078del	ENSP00000225964.5:p.Gly356ProfsTer4
ENST00000471344.1:n.9_22del
NM_000088.3:c.1065_1078del , LRG_1t1:c.1065_1078del	NP_000079.2:p.Gly356ProfsTer4
XM_005257058.3:c.1065_1078del	XP_005257115.2:p.Gly356ProfsTer4
XM_005257059.3:c.957+657_957+670del	XP_005257116.2:n.957+657_957+670del
XM_011524341.1:c.958-179_958-166del	XP_011522643.1:n.958-179_958-166del
XM_005257058.4:c.1065_1078del	XP_005257115.2:p.Gly356ProfsTer4
XM_005257059.4:c.957+657_957+670del	XP_005257116.2:n.957+657_957+670del
NM_000088.4:c.1065_1078del MANE Select	NP_000079.2:p.Gly356ProfsTer4