Canonical Allele Identifier: CA1726790990

Gene: COL1A2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.94401783_94401786delinsAAGG , CM000669.2:g.94401783_94401786delinsAAGG	GRCh38
NC_000007.13:g.94031095_94031098delinsAAGG , CM000669.1:g.94031095_94031098delinsAAGG	GRCh37
NC_000007.12:g.93869031_93869034delinsAAGG	NCBI36
NG_007405.1:g.12223_12226delinsAAGG , LRG_2:g.12223_12226delinsAAGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000297268.11:c.279+163_279+166delinsAAGG MANE Select	ENSP00000297268.6:n.279+163_279+166delinsAAGG
ENST00000297268.10:c.279+163_279+166delinsAAGG	ENSP00000297268.6:n.279+163_279+166delinsAAGG
ENST00000620463.1:c.273+163_273+166delinsAAGG	ENSP00000477719.1:n.273+163_273+166delinsAAGG
NM_000089.3:c.279+163_279+166delinsAAGG , LRG_2t1:c.279+163_279+166delinsAAGG	NP_000080.2:n.279+163_279+166delinsAAGG
NM_000089.4:c.279+163_279+166delinsAAGG MANE Select	NP_000080.2:n.279+163_279+166delinsAAGG