Canonical Allele Identifier: CA1726790959

Gene: COL1A2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.94401723_94401730delinsCAATACTT , CM000669.2:g.94401723_94401730delinsCAATACTT	GRCh38
NC_000007.13:g.94031035_94031042delinsCAATACTT , CM000669.1:g.94031035_94031042delinsCAATACTT	GRCh37
NC_000007.12:g.93868971_93868978delinsCAATACTT	NCBI36
NG_007405.1:g.12163_12170delinsCAATACTT , LRG_2:g.12163_12170delinsCAATACTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000297268.11:c.279+103_279+110delinsCAATACTT MANE Select	ENSP00000297268.6:n.279+103_279+110delinsCAATACTT
ENST00000297268.10:c.279+103_279+110delinsCAATACTT	ENSP00000297268.6:n.279+103_279+110delinsCAATACTT
ENST00000620463.1:c.273+103_273+110delinsCAATACTT	ENSP00000477719.1:n.273+103_273+110delinsCAATACTT
NM_000089.3:c.279+103_279+110delinsCAATACTT , LRG_2t1:c.279+103_279+110delinsCAATACTT	NP_000080.2:n.279+103_279+110delinsCAATACTT
NM_000089.4:c.279+103_279+110delinsCAATACTT MANE Select	NP_000080.2:n.279+103_279+110delinsCAATACTT