Canonical Allele Identifier: CA2576317760

Gene: COL1A1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50199354del , CM000679.2:g.50199354del	GRCh38
NC_000017.10:g.48276715del , CM000679.1:g.48276715del	GRCh37
NC_000017.9:g.45631714del	NCBI36
NG_007400.1:g.7289del , LRG_1:g.7289del

Transcript Alleles

HGVS	Amino-acid change
ENST00000225964.10:c.370-24del MANE Select	ENSP00000225964.6:n.370-24del
ENST00000225964.9:c.370-24del	ENSP00000225964.5:n.370-24del
ENST00000474644.1:n.591-24del
ENST00000507689.1:c.424-24del	ENSP00000460459.1:n.424-24del
NM_000088.3:c.370-24del , LRG_1t1:c.370-24del	NP_000079.2:n.370-24del
XM_005257058.3:c.370-24del	XP_005257115.2:n.370-24del
XM_005257059.3:c.370-24del	XP_005257116.2:n.370-24del
XM_011524341.1:c.370-24del	XP_011522643.1:n.370-24del
XM_005257058.4:c.370-24del	XP_005257115.2:n.370-24del
XM_005257059.4:c.370-24del	XP_005257116.2:n.370-24del
NM_000088.4:c.370-24del MANE Select	NP_000079.2:n.370-24del