Canonical Allele Identifier: CA2263919555

Gene: COL1A1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50197011_50197015delinsCTGTG , CM000679.2:g.50197011_50197015delinsCTGTG	GRCh38
NC_000017.10:g.48274372_48274376delinsCTGTG , CM000679.1:g.48274372_48274376delinsCTGTG	GRCh37
NC_000017.9:g.45629371_45629375delinsCTGTG	NCBI36
NG_007400.1:g.9625_9629delinsCACAG , LRG_1:g.9625_9629delinsCACAG

Transcript Alleles

HGVS	Amino-acid change
ENST00000225964.10:c.799_803delinsCACAG MANE Select	ENSP00000225964.6:p.His267=
ENST00000225964.9:c.799_803delinsCACAG	ENSP00000225964.5:p.His267=
ENST00000495677.1:n.526_530delinsCACAG
NM_000088.3:c.799_803delinsCACAG , LRG_1t1:c.799_803delinsCACAG	NP_000079.2:p.His267=
XM_005257058.3:c.799_803delinsCACAG	XP_005257115.2:p.His267=
XM_005257059.3:c.799_803delinsCACAG	XP_005257116.2:p.His267=
XM_011524341.1:c.799_803delinsCACAG	XP_011522643.1:p.His267=
XM_005257058.4:c.799_803delinsCACAG	XP_005257115.2:p.His267=
XM_005257059.4:c.799_803delinsCACAG	XP_005257116.2:p.His267=
NM_000088.4:c.799_803delinsCACAG MANE Select	NP_000079.2:p.His267=