Canonical Allele Identifier: CA2263918389

Gene: COL1A1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50194787_50194788delinsCT , CM000679.2:g.50194787_50194788delinsCT	GRCh38
NC_000017.10:g.48272148_48272149delinsCT , CM000679.1:g.48272148_48272149delinsCT	GRCh37
NC_000017.9:g.45627147_45627148delinsCT	NCBI36
NG_007400.1:g.11852_11853delinsAG , LRG_1:g.11852_11853delinsAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225964.10:c.1394_1395delinsAG MANE Select	ENSP00000225964.6:p.Glu465=
ENST00000225964.9:c.1394_1395delinsAG	ENSP00000225964.5:p.Glu465=
ENST00000471344.1:n.338_339delinsAG
NM_000088.3:c.1394_1395delinsAG , LRG_1t1:c.1394_1395delinsAG	NP_000079.2:p.Glu465=
XM_005257058.3:c.1394_1395delinsAG	XP_005257115.2:p.Glu465=
XM_005257059.3:c.957+1526_957+1527delinsAG	XP_005257116.2:n.957+1526_957+1527delinsAG
XM_011524341.1:c.1196_1197delinsAG	XP_011522643.1:p.Glu399=
XM_005257058.4:c.1394_1395delinsAG	XP_005257115.2:p.Glu465=
XM_005257059.4:c.957+1526_957+1527delinsAG	XP_005257116.2:n.957+1526_957+1527delinsAG
NM_000088.4:c.1394_1395delinsAG MANE Select	NP_000079.2:p.Glu465=