Canonical Allele Identifier: CA2695208035

Gene: COL1A2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.94422968_94422985del , CM000669.2:g.94422968_94422985del	GRCh38
NC_000007.13:g.94052280_94052297del , CM000669.1:g.94052280_94052297del	GRCh37
NC_000007.12:g.93890216_93890233del	NCBI36
NG_007405.1:g.33408_33425del , LRG_2:g.33408_33425del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000297268.11:c.2415_2432del MANE Select	ENSP00000297268.6:p.Pro806_Gly811del
ENST00000297268.10:c.2415_2432del	ENSP00000297268.6:p.Pro806_Gly811del
ENST00000481570.5:n.498_515del
ENST00000497316.5:n.812_829del
ENST00000620463.1:c.2409_2426del	ENSP00000477719.1:p.Pro804_Gly809del
NM_000089.3:c.2415_2432del , LRG_2t1:c.2415_2432del	NP_000080.2:p.Pro806_Gly811del
NM_000089.4:c.2415_2432del MANE Select	NP_000080.2:p.Pro806_Gly811del