Canonical Allele Identifier: CA2263919031

Gene: COL1A1

Linked Data

• dbSNP Id: rs1666037466

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50196013_50196014del , CM000679.2:g.50196013_50196014del	GRCh38
NC_000017.10:g.48273374_48273375del , CM000679.1:g.48273374_48273375del	GRCh37
NC_000017.9:g.45628373_45628374del	NCBI36
NG_007400.1:g.10629_10630del , LRG_1:g.10629_10630del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225964.10:c.1003-35_1003-34del MANE Select	ENSP00000225964.6:n.1003-35_1003-34del
ENST00000225964.9:c.1003-35_1003-34del	ENSP00000225964.5:n.1003-35_1003-34del
NM_000088.3:c.1003-35_1003-34del , LRG_1t1:c.1003-35_1003-34del	NP_000079.2:n.1003-35_1003-34del
XM_005257058.3:c.1003-35_1003-34del	XP_005257115.2:n.1003-35_1003-34del
XM_005257059.3:c.957+303_957+304del	XP_005257116.2:n.957+303_957+304del
XM_011524341.1:c.957+303_957+304del	XP_011522643.1:n.957+303_957+304del
XM_005257058.4:c.1003-35_1003-34del	XP_005257115.2:n.1003-35_1003-34del
XM_005257059.4:c.957+303_957+304del	XP_005257116.2:n.957+303_957+304del
NM_000088.4:c.1003-35_1003-34del MANE Select	NP_000079.2:n.1003-35_1003-34del