Canonical Allele Identifier: CA2809757570

Gene: COL1A1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50197176_50197177insTT , CM000679.2:g.50197176_50197177insTT	GRCh38
NC_000017.10:g.48274537_48274538insTT , CM000679.1:g.48274537_48274538insTT	GRCh37
NC_000017.9:g.45629536_45629537insTT	NCBI36
NG_007400.1:g.9464_9465insAA , LRG_1:g.9464_9465insAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225964.10:c.750+4_750+5insAA MANE Select	ENSP00000225964.6:n.750+4_750+5insAA
ENST00000225964.9:c.750+4_750+5insAA	ENSP00000225964.5:n.750+4_750+5insAA
ENST00000495677.1:n.477+4_477+5insAA
NM_000088.3:c.750+4_750+5insAA , LRG_1t1:c.750+4_750+5insAA	NP_000079.2:n.750+4_750+5insAA
XM_005257058.3:c.750+4_750+5insAA	XP_005257115.2:n.750+4_750+5insAA
XM_005257059.3:c.750+4_750+5insAA	XP_005257116.2:n.750+4_750+5insAA
XM_011524341.1:c.750+4_750+5insAA	XP_011522643.1:n.750+4_750+5insAA
XM_005257058.4:c.750+4_750+5insAA	XP_005257115.2:n.750+4_750+5insAA
XM_005257059.4:c.750+4_750+5insAA	XP_005257116.2:n.750+4_750+5insAA
NM_000088.4:c.750+4_750+5insAA MANE Select	NP_000079.2:n.750+4_750+5insAA