Canonical Allele Identifier: CA1726783445

Gene: COL1A2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.94426589_94426596delinsGGATTTTC , CM000669.2:g.94426589_94426596delinsGGATTTTC	GRCh38
NC_000007.13:g.94055901_94055908delinsGGATTTTC , CM000669.1:g.94055901_94055908delinsGGATTTTC	GRCh37
NC_000007.12:g.93893837_93893844delinsGGATTTTC	NCBI36
NG_007405.1:g.37029_37036delinsGGATTTTC , LRG_2:g.37029_37036delinsGGATTTTC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000297268.11:c.3105+59_3105+66delinsGGATTTTC MANE Select	ENSP00000297268.6:n.3105+59_3105+66delinsGGATTTTC
ENST00000297268.10:c.3105+59_3105+66delinsGGATTTTC	ENSP00000297268.6:n.3105+59_3105+66delinsGGATTTTC
ENST00000478215.1:n.723_730delinsGGATTTTC
ENST00000481570.5:n.3137_3144delinsGGATTTTC
ENST00000488121.1:n.21+59_21+66delinsGGATTTTC
ENST00000620463.1:c.3099+59_3099+66delinsGGATTTTC	ENSP00000477719.1:n.3099+59_3099+66delinsGGATTTTC
NM_000089.3:c.3105+59_3105+66delinsGGATTTTC , LRG_2t1:c.3105+59_3105+66delinsGGATTTTC	NP_000080.2:n.3105+59_3105+66delinsGGATTTTC
NM_000089.4:c.3105+59_3105+66delinsGGATTTTC MANE Select	NP_000080.2:n.3105+59_3105+66delinsGGATTTTC