Canonical Allele Identifier: CA2263919617

Gene: COL1A1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50197129_50197145delinsATGAAGCCCAAGTGCAG , CM000679.2:g.50197129_50197145delinsATGAAGCCCAAGTGCAG	GRCh38
NC_000017.10:g.48274490_48274506delinsATGAAGCCCAAGTGCAG , CM000679.1:g.48274490_48274506delinsATGAAGCCCAAGTGCAG	GRCh37
NC_000017.9:g.45629489_45629505delinsATGAAGCCCAAGTGCAG	NCBI36
NG_007400.1:g.9495_9511delinsCTGCACTTGGGCTTCAT , LRG_1:g.9495_9511delinsCTGCACTTGGGCTTCAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225964.10:c.750+35_750+51delinsCTGCACTTGGGCTTCAT MANE Select	ENSP00000225964.6:n.750+35_750+51delinsCTGCACTTGGGCTTCAT
ENST00000225964.9:c.750+35_750+51delinsCTGCACTTGGGCTTCAT	ENSP00000225964.5:n.750+35_750+51delinsCTGCACTTGGGCTTCAT
ENST00000495677.1:n.477+35_477+51delinsCTGCACTTGGGCTTCAT
NM_000088.3:c.750+35_750+51delinsCTGCACTTGGGCTTCAT , LRG_1t1:c.750+35_750+51delinsCTGCACTTGGGCTTCAT	NP_000079.2:n.750+35_750+51delinsCTGCACTTGGGCTTCAT
XM_005257058.3:c.750+35_750+51delinsCTGCACTTGGGCTTCAT	XP_005257115.2:n.750+35_750+51delinsCTGCACTTGGGCTTCAT
XM_005257059.3:c.750+35_750+51delinsCTGCACTTGGGCTTCAT	XP_005257116.2:n.750+35_750+51delinsCTGCACTTGGGCTTCAT
XM_011524341.1:c.750+35_750+51delinsCTGCACTTGGGCTTCAT	XP_011522643.1:n.750+35_750+51delinsCTGCACTTGGGCTTCAT
XM_005257058.4:c.750+35_750+51delinsCTGCACTTGGGCTTCAT	XP_005257115.2:n.750+35_750+51delinsCTGCACTTGGGCTTCAT
XM_005257059.4:c.750+35_750+51delinsCTGCACTTGGGCTTCAT	XP_005257116.2:n.750+35_750+51delinsCTGCACTTGGGCTTCAT
NM_000088.4:c.750+35_750+51delinsCTGCACTTGGGCTTCAT MANE Select	NP_000079.2:n.750+35_750+51delinsCTGCACTTGGGCTTCAT