Canonical Allele Identifier: CA2263919350

Gene: COL1A1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50196626_50196634delinsAGCAGGACC , CM000679.2:g.50196626_50196634delinsAGCAGGACC	GRCh38
NC_000017.10:g.48273987_48273995delinsAGCAGGACC , CM000679.1:g.48273987_48273995delinsAGCAGGACC	GRCh37
NC_000017.9:g.45628986_45628994delinsAGCAGGACC	NCBI36
NG_007400.1:g.10006_10014delinsGGTCCTGCT , LRG_1:g.10006_10014delinsGGTCCTGCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225964.10:c.841_849delinsGGTCCTGCT MANE Select	ENSP00000225964.6:p.Gly281=
ENST00000225964.9:c.841_849delinsGGTCCTGCT	ENSP00000225964.5:p.Gly281=
ENST00000495677.1:n.568_576delinsGGTCCTGCT
NM_000088.3:c.841_849delinsGGTCCTGCT , LRG_1t1:c.841_849delinsGGTCCTGCT	NP_000079.2:p.Gly281=
XM_005257058.3:c.841_849delinsGGTCCTGCT	XP_005257115.2:p.Gly281=
XM_005257059.3:c.841_849delinsGGTCCTGCT	XP_005257116.2:p.Gly281=
XM_011524341.1:c.841_849delinsGGTCCTGCT	XP_011522643.1:p.Gly281=
XM_005257058.4:c.841_849delinsGGTCCTGCT	XP_005257115.2:p.Gly281=
XM_005257059.4:c.841_849delinsGGTCCTGCT	XP_005257116.2:p.Gly281=
NM_000088.4:c.841_849delinsGGTCCTGCT MANE Select	NP_000079.2:p.Gly281=