Canonical Allele Identifier: CA2695226472

Gene: COL1A1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50188623del , CM000679.2:g.50188623del	GRCh38
NC_000017.10:g.48265984del , CM000679.1:g.48265984del	GRCh37
NC_000017.9:g.45620983del	NCBI36
NG_007400.1:g.18017del , LRG_1:g.18017del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225964.10:c.3114del MANE Select	ENSP00000225964.6:p.Thr1039ProfsTer?
ENST00000225964.9:c.3114del	ENSP00000225964.5:p.Thr1039ProfsTer?
ENST00000511732.1:n.58del
NM_000088.3:c.3114del , LRG_1t1:c.3114del	NP_000079.2:p.Thr1039ProfsTer?
XM_005257058.3:c.2844del	XP_005257115.2:p.Thr949ProfsTer?
XM_005257059.3:c.2196del	XP_005257116.2:p.Thr733ProfsTer?
XM_011524341.1:c.2916del	XP_011522643.1:p.Thr973ProfsTer?
XM_005257058.4:c.2844del	XP_005257115.2:p.Thr949ProfsTer?
XM_005257059.4:c.2196del	XP_005257116.2:p.Thr733ProfsTer?
NM_000088.4:c.3114del MANE Select	NP_000079.2:p.Thr1039ProfsTer?