Canonical Allele Identifier: CA2263920480

Gene: COL1A1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50198951_50198953delinsCTT , CM000679.2:g.50198951_50198953delinsCTT	GRCh38
NC_000017.10:g.48276312_48276314delinsCTT , CM000679.1:g.48276312_48276314delinsCTT	GRCh37
NC_000017.9:g.45631311_45631313delinsCTT	NCBI36
NG_007400.1:g.7687_7689delinsAAG , LRG_1:g.7687_7689delinsAAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225964.10:c.471+273_471+275delinsAAG MANE Select	ENSP00000225964.6:n.471+273_471+275delinsAAG
ENST00000225964.9:c.471+273_471+275delinsAAG	ENSP00000225964.5:n.471+273_471+275delinsAAG
NM_000088.3:c.471+273_471+275delinsAAG , LRG_1t1:c.471+273_471+275delinsAAG	NP_000079.2:n.471+273_471+275delinsAAG
XM_005257058.3:c.471+273_471+275delinsAAG	XP_005257115.2:n.471+273_471+275delinsAAG
XM_005257059.3:c.471+273_471+275delinsAAG	XP_005257116.2:n.471+273_471+275delinsAAG
XM_011524341.1:c.471+273_471+275delinsAAG	XP_011522643.1:n.471+273_471+275delinsAAG
XM_005257058.4:c.471+273_471+275delinsAAG	XP_005257115.2:n.471+273_471+275delinsAAG
XM_005257059.4:c.471+273_471+275delinsAAG	XP_005257116.2:n.471+273_471+275delinsAAG
NM_000088.4:c.471+273_471+275delinsAAG MANE Select	NP_000079.2:n.471+273_471+275delinsAAG