Canonical Allele Identifier: CA2809757462

Gene: COL1A1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50196670_50196671insTCTGTGTCCCTTCATTCCAGGGAGGCCAGCTGTTCCGGGCAATCCTCGAGCACCCTGAGGCCCAGGAGGCCCACGCTCA , CM000679.2:g.50196670_50196671insTCTGTGTCCCTTCATTCCAGGGAGGCCAGCTGTTCCGGGCAATCCTCGAGCACCCTGAGGCCCAGGAGGCCCACGCTCA	GRCh38
NC_000017.10:g.48274031_48274032insTCTGTGTCCCTTCATTCCAGGGAGGCCAGCTGTTCCGGGCAATCCTCGAGCACCCTGAGGCCCAGGAGGCCCACGCTCA , CM000679.1:g.48274031_48274032insTCTGTGTCCCTTCATTCCAGGGAGGCCAGCTGTTCCGGGCAATCCTCGAGCACCCTGAGGCCCAGGAGGCCCACGCTCA	GRCh37
NC_000017.9:g.45629030_45629031insTCTGTGTCCCTTCATTCCAGGGAGGCCAGCTGTTCCGGGCAATCCTCGAGCACCCTGAGGCCCAGGAGGCCCACGCTCA	NCBI36
NG_007400.1:g.9969_9970insTGAGCGTGGGCCTCCTGGGCCTCAGGGTGCTCGAGGATTGCCCGGAACAGCTGGCCTCCCTGGAATGAAGGGACACAGA , LRG_1:g.9969_9970insTGAGCGTGGGCCTCCTGGGCCTCAGGGTGCTCGAGGATTGCCCGGAACAGCTGGCCTCCCTGGAATGAAGGGACACAGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225964.10:c.805-1_805insTGAGCGTGGGCCTCCTGGGCCTCAGGGTGCTCGAGGATTGCCCGGAACAGCTGGCCTCCCTGGAATGAAGGGACACAGA MANE Select	ENSP00000225964.6:n.805-1_805insTGAGCGTGGGCCTCCTGGGCCTCAGGGTG...
ENST00000225964.9:c.805-1_805insTGAGCGTGGGCCTCCTGGGCCTCAGGGTGCTCGAGGATTGCCCGGAACAGCTGGCCTCCCTGGAATGAAGGGACACAGA	ENSP00000225964.5:n.805-1_805insTGAGCGTGGGCCTCCTGGGCCTCAGGGTG...
ENST00000495677.1:n.532-1_532insTGAGCGTGGGCCTCCTGGGCCTCAGGGTGCTCGAGGATTGCCCGGAACAGCTGGCCTCCCTGGAATGAAGGGACACAGA
NM_000088.3:c.805-1_805insTGAGCGTGGGCCTCCTGGGCCTCAGGGTGCTCGAGGATTGCCCGGAACAGCTGGCCTCCCTGGAATGAAGGGACACAGA , LRG_1t1:c.805-1_805insTGAGCGTGGGCCTCCTGGGCCTCAGGGTGCTCGAGGATTGCCCGGAACAGCTGGCCTCCCTGGAATGAAGGGACACAGA	NP_000079.2:n.805-1_805insTGAGCGTGGGCCTCCTGGGCCTCAGGGTGCTCGAG...
XM_005257058.3:c.805-1_805insTGAGCGTGGGCCTCCTGGGCCTCAGGGTGCTCGAGGATTGCCCGGAACAGCTGGCCTCCCTGGAATGAAGGGACACAGA	XP_005257115.2:n.805-1_805insTGAGCGTGGGCCTCCTGGGCCTCAGGGTGCTC...
XM_005257059.3:c.805-1_805insTGAGCGTGGGCCTCCTGGGCCTCAGGGTGCTCGAGGATTGCCCGGAACAGCTGGCCTCCCTGGAATGAAGGGACACAGA	XP_005257116.2:n.805-1_805insTGAGCGTGGGCCTCCTGGGCCTCAGGGTGCTC...
XM_011524341.1:c.805-1_805insTGAGCGTGGGCCTCCTGGGCCTCAGGGTGCTCGAGGATTGCCCGGAACAGCTGGCCTCCCTGGAATGAAGGGACACAGA	XP_011522643.1:n.805-1_805insTGAGCGTGGGCCTCCTGGGCCTCAGGGTGCTC...
XM_005257058.4:c.805-1_805insTGAGCGTGGGCCTCCTGGGCCTCAGGGTGCTCGAGGATTGCCCGGAACAGCTGGCCTCCCTGGAATGAAGGGACACAGA	XP_005257115.2:n.805-1_805insTGAGCGTGGGCCTCCTGGGCCTCAGGGTGCTC...
XM_005257059.4:c.805-1_805insTGAGCGTGGGCCTCCTGGGCCTCAGGGTGCTCGAGGATTGCCCGGAACAGCTGGCCTCCCTGGAATGAAGGGACACAGA	XP_005257116.2:n.805-1_805insTGAGCGTGGGCCTCCTGGGCCTCAGGGTGCTC...
NM_000088.4:c.805-1_805insTGAGCGTGGGCCTCCTGGGCCTCAGGGTGCTCGAGGATTGCCCGGAACAGCTGGCCTCCCTGGAATGAAGGGACACAGA MANE Select	NP_000079.2:n.805-1_805insTGAGCGTGGGCCTCCTGGGCCTCAGGGTGCTCGAG...