Canonical Allele Identifier: CA2263918043

Gene: COL1A1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50194151_50194152delinsAG , CM000679.2:g.50194151_50194152delinsAG	GRCh38
NC_000017.10:g.48271512_48271513delinsAG , CM000679.1:g.48271512_48271513delinsAG	GRCh37
NC_000017.9:g.45626511_45626512delinsAG	NCBI36
NG_007400.1:g.12488_12489delinsCT , LRG_1:g.12488_12489delinsCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225964.10:c.1646_1647delinsCT MANE Select	ENSP00000225964.6:p.Pro549=
ENST00000225964.9:c.1646_1647delinsCT	ENSP00000225964.5:p.Pro549=
ENST00000463440.1:n.36_37delinsCT
ENST00000471344.1:n.590_591delinsCT
NM_000088.3:c.1646_1647delinsCT , LRG_1t1:c.1646_1647delinsCT	NP_000079.2:p.Pro549=
XM_005257058.3:c.1646_1647delinsCT	XP_005257115.2:p.Pro549=
XM_005257059.3:c.958-1459_958-1458delinsCT	XP_005257116.2:n.958-1459_958-1458delinsCT
XM_011524341.1:c.1448_1449delinsCT	XP_011522643.1:p.Pro483=
XM_005257058.4:c.1646_1647delinsCT	XP_005257115.2:p.Pro549=
XM_005257059.4:c.958-1459_958-1458delinsCT	XP_005257116.2:n.958-1459_958-1458delinsCT
NM_000088.4:c.1646_1647delinsCT MANE Select	NP_000079.2:p.Pro549=