Canonical Allele Identifier: CA2523241140

Gene: COL1A2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.94426283_94426284insGTTTTGGACTGATTCTCTCTAAATGTTAGTGTTGCAAAGAAATCTTCAGCATG , CM000669.2:g.94426283_94426284insGTTTTGGACTGATTCTCTCTAAATGTTAGTGTTGCAAAGAAATCTTCAGCATG	GRCh38
NC_000007.13:g.94055595_94055596insGTTTTGGACTGATTCTCTCTAAATGTTAGTGTTGCAAAGAAATCTTCAGCATG , CM000669.1:g.94055595_94055596insGTTTTGGACTGATTCTCTCTAAATGTTAGTGTTGCAAAGAAATCTTCAGCATG	GRCh37
NC_000007.12:g.93893531_93893532insGTTTTGGACTGATTCTCTCTAAATGTTAGTGTTGCAAAGAAATCTTCAGCATG	NCBI36
NG_007405.1:g.36723_36724insGTTTTGGACTGATTCTCTCTAAATGTTAGTGTTGCAAAGAAATCTTCAGCATG , LRG_2:g.36723_36724insGTTTTGGACTGATTCTCTCTAAATGTTAGTGTTGCAAAGAAATCTTCAGCATG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000297268.11:c.2998-140_2998-139insGTTTTGGACTGATTCTCTCTAAATGTTAGTGTTGCAAAGAAATCTTCAGCATG MANE Select	ENSP00000297268.6:n.2998-140_2998-139insGTTTTGGACTGATTCTCTCTA...
ENST00000297268.10:c.2998-140_2998-139insGTTTTGGACTGATTCTCTCTAAATGTTAGTGTTGCAAAGAAATCTTCAGCATG	ENSP00000297268.6:n.2998-140_2998-139insGTTTTGGACTGATTCTCTCTA...
ENST00000478215.1:n.557-140_557-139insGTTTTGGACTGATTCTCTCTAAATGTTAGTGTTGCAAAGAAATCTTCAGCATG
ENST00000481570.5:n.2971-140_2971-139insGTTTTGGACTGATTCTCTCTAAATGTTAGTGTTGCAAAGAAATCTTCAGCATG
ENST00000620463.1:c.2992-140_2992-139insGTTTTGGACTGATTCTCTCTAAATGTTAGTGTTGCAAAGAAATCTTCAGCATG	ENSP00000477719.1:n.2992-140_2992-139insGTTTTGGACTGATTCTCTCTA...
NM_000089.3:c.2998-140_2998-139insGTTTTGGACTGATTCTCTCTAAATGTTAGTGTTGCAAAGAAATCTTCAGCATG , LRG_2t1:c.2998-140_2998-139insGTTTTGGACTGATTCTCTCTAAATGTTAGTGTTGCAAAGAAATCTTCAGCATG	NP_000080.2:n.2998-140_2998-139insGTTTTGGACTGATTCTCTCTAAATGTT...
NM_000089.4:c.2998-140_2998-139insGTTTTGGACTGATTCTCTCTAAATGTTAGTGTTGCAAAGAAATCTTCAGCATG MANE Select	NP_000080.2:n.2998-140_2998-139insGTTTTGGACTGATTCTCTCTAAATGTT...