Canonical Allele Identifier: CA2695226687

Gene: COL1A1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50196320del , CM000679.2:g.50196320del	GRCh38
NC_000017.10:g.48273681del , CM000679.1:g.48273681del	GRCh37
NC_000017.9:g.45628680del	NCBI36
NG_007400.1:g.10322del , LRG_1:g.10322del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225964.10:c.953del MANE Select	ENSP00000225964.6:p.Pro318LeufsTer?
ENST00000225964.9:c.953del	ENSP00000225964.5:p.Pro318LeufsTer?
ENST00000485870.1:n.278del
NM_000088.3:c.953del , LRG_1t1:c.953del	NP_000079.2:p.Pro318LeufsTer?
XM_005257058.3:c.953del	XP_005257115.2:p.Pro318LeufsTer?
XM_005257059.3:c.953del	XP_005257116.2:p.Pro318LeufsTer?
XM_011524341.1:c.953del	XP_011522643.1:p.Pro318LeufsTer?
XM_005257058.4:c.953del	XP_005257115.2:p.Pro318LeufsTer?
XM_005257059.4:c.953del	XP_005257116.2:p.Pro318LeufsTer?
NM_000088.4:c.953del MANE Select	NP_000079.2:p.Pro318LeufsTer?