Canonical Allele Identifier: CA2263919205

Gene: COL1A1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50196332_50196333delinsAG , CM000679.2:g.50196332_50196333delinsAG	GRCh38
NC_000017.10:g.48273693_48273694delinsAG , CM000679.1:g.48273693_48273694delinsAG	GRCh37
NC_000017.9:g.45628692_45628693delinsAG	NCBI36
NG_007400.1:g.10307_10308delinsCT , LRG_1:g.10307_10308delinsCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225964.10:c.938_939delinsCT MANE Select	ENSP00000225964.6:p.Pro313=
ENST00000225964.9:c.938_939delinsCT	ENSP00000225964.5:p.Pro313=
ENST00000485870.1:n.263_264delinsCT
NM_000088.3:c.938_939delinsCT , LRG_1t1:c.938_939delinsCT	NP_000079.2:p.Pro313=
XM_005257058.3:c.938_939delinsCT	XP_005257115.2:p.Pro313=
XM_005257059.3:c.938_939delinsCT	XP_005257116.2:p.Pro313=
XM_011524341.1:c.938_939delinsCT	XP_011522643.1:p.Pro313=
XM_005257058.4:c.938_939delinsCT	XP_005257115.2:p.Pro313=
XM_005257059.4:c.938_939delinsCT	XP_005257116.2:p.Pro313=
NM_000088.4:c.938_939delinsCT MANE Select	NP_000079.2:p.Pro313=