Canonical Allele Identifier: CA291544416

Gene: COL1A1

Linked Data

• ClinVar Variation Id: 17345
• ClinVar RCV Id: RCV000018886
• dbSNP Id: rs72651618
• MyVariant Identifiers: chr17:g.48270186_48270188del (hg19) ; chr17:g.50192825_50192827del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50192825_50192827del , CM000679.2:g.50192825_50192827del	GRCh38
NC_000017.10:g.48270186_48270188del , CM000679.1:g.48270186_48270188del	GRCh37
NC_000017.9:g.45625185_45625187del	NCBI36
NG_007400.1:g.13813_13815del , LRG_1:g.13813_13815del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225964.10:c.1845_1847del MANE Select	ENSP00000225964.6:p.Glu615_Ala616delinsAsp
ENST00000225964.9:c.1845_1847del	ENSP00000225964.5:p.Glu615_Ala616delinsAsp
ENST00000476387.1:n.194_196del
NM_000088.3:c.1845_1847del , LRG_1t1:c.1845_1847del	NP_000079.2:p.Glu615_Ala616delinsAsp
XM_005257058.3:c.1845_1847del	XP_005257115.2:p.Glu615_Ala616delinsAsp
XM_005257059.3:c.958-134_958-132del	XP_005257116.2:n.958-134_958-132del
XM_011524341.1:c.1647_1649del	XP_011522643.1:p.Glu549_Ala550delinsAsp
XM_005257058.4:c.1845_1847del	XP_005257115.2:p.Glu615_Ala616delinsAsp
XM_005257059.4:c.958-134_958-132del	XP_005257116.2:n.958-134_958-132del
NM_000088.4:c.1845_1847del MANE Select	NP_000079.2:p.Glu615_Ala616delinsAsp