Canonical Allele Identifier: CA2263920524

Gene: COL1A1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50199037_50199043delinsGATACAT , CM000679.2:g.50199037_50199043delinsGATACAT	GRCh38
NC_000017.10:g.48276398_48276404delinsGATACAT , CM000679.1:g.48276398_48276404delinsGATACAT	GRCh37
NC_000017.9:g.45631397_45631403delinsGATACAT	NCBI36
NG_007400.1:g.7597_7603delinsATGTATC , LRG_1:g.7597_7603delinsATGTATC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225964.10:c.471+183_471+189delinsATGTATC MANE Select	ENSP00000225964.6:n.471+183_471+189delinsATGTATC
ENST00000225964.9:c.471+183_471+189delinsATGTATC	ENSP00000225964.5:n.471+183_471+189delinsATGTATC
NM_000088.3:c.471+183_471+189delinsATGTATC , LRG_1t1:c.471+183_471+189delinsATGTATC	NP_000079.2:n.471+183_471+189delinsATGTATC
XM_005257058.3:c.471+183_471+189delinsATGTATC	XP_005257115.2:n.471+183_471+189delinsATGTATC
XM_005257059.3:c.471+183_471+189delinsATGTATC	XP_005257116.2:n.471+183_471+189delinsATGTATC
XM_011524341.1:c.471+183_471+189delinsATGTATC	XP_011522643.1:n.471+183_471+189delinsATGTATC
XM_005257058.4:c.471+183_471+189delinsATGTATC	XP_005257115.2:n.471+183_471+189delinsATGTATC
XM_005257059.4:c.471+183_471+189delinsATGTATC	XP_005257116.2:n.471+183_471+189delinsATGTATC
NM_000088.4:c.471+183_471+189delinsATGTATC MANE Select	NP_000079.2:n.471+183_471+189delinsATGTATC