Canonical Allele Identifier: CA2263920637

Gene: COL1A1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50199310_50199311delinsAG , CM000679.2:g.50199310_50199311delinsAG	GRCh38
NC_000017.10:g.48276671_48276672delinsAG , CM000679.1:g.48276671_48276672delinsAG	GRCh37
NC_000017.9:g.45631670_45631671delinsAG	NCBI36
NG_007400.1:g.7329_7330delinsCT , LRG_1:g.7329_7330delinsCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225964.10:c.386_387delinsCT MANE Select	ENSP00000225964.6:p.Pro129=
ENST00000225964.9:c.386_387delinsCT	ENSP00000225964.5:p.Pro129=
ENST00000474644.1:n.607_608delinsCT
ENST00000507689.1:c.440_441delinsCT	ENSP00000460459.1:p.Pro147=
NM_000088.3:c.386_387delinsCT , LRG_1t1:c.386_387delinsCT	NP_000079.2:p.Pro129=
XM_005257058.3:c.386_387delinsCT	XP_005257115.2:p.Pro129=
XM_005257059.3:c.386_387delinsCT	XP_005257116.2:p.Pro129=
XM_011524341.1:c.386_387delinsCT	XP_011522643.1:p.Pro129=
XM_005257058.4:c.386_387delinsCT	XP_005257115.2:p.Pro129=
XM_005257059.4:c.386_387delinsCT	XP_005257116.2:p.Pro129=
NM_000088.4:c.386_387delinsCT MANE Select	NP_000079.2:p.Pro129=