Canonical Allele Identifier: CA2263918125

Gene: COL1A1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50194323_50194355delinsGCCAGGCTGAAAGCCTGGGGCCTCACCTTGGCA , CM000679.2:g.50194323_50194355delinsGCCAGGCTGAAAGCCTGGGGCCTCACCTTGGCA	GRCh38
NC_000017.10:g.48271684_48271716delinsGCCAGGCTGAAAGCCTGGGGCCTCACCTTGGCA , CM000679.1:g.48271684_48271716delinsGCCAGGCTGAAAGCCTGGGGCCTCACCTTGGCA	GRCh37
NC_000017.9:g.45626683_45626715delinsGCCAGGCTGAAAGCCTGGGGCCTCACCTTGGCA	NCBI36
NG_007400.1:g.12285_12317delinsTGCCAAGGTGAGGCCCCAGGCTTTCAGCCTGGC , LRG_1:g.12285_12317delinsTGCCAAGGTGAGGCCCCAGGCTTTCAGCCTGGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225964.10:c.1608_1614+26delinsTGCCAAGGTGAGGCCCCAGGCTTTCAGCCTGGC
ENST00000225964.9:c.1608_1614+26delinsTGCCAAGGTGAGGCCCCAGGCTTTCAGCCTGGC
ENST00000471344.1:n.552_558+26delinsTGCCAAGGTGAGGCCCCAGGCTTTCAGCCTGGC
NM_000088.3:c.1608_1614+26delinsTGCCAAGGTGAGGCCCCAGGCTTTCAGCCTGGC , LRG_1t1:c.1608_1614+26delinsTGCCAAGGTGAGGCCCCAGGCTTTCAGCCTGGC
XM_005257058.3:c.1608_1614+26delinsTGCCAAGGTGAGGCCCCAGGCTTTCAGCCTGGC
XM_005257059.3:c.958-1662_958-1630delinsTGCCAAGGTGAGGCCCCAGGCTTTCAGCCTGGC	XP_005257116.2:n.958-1662_958-1630delinsTGCCAAGGTGAGGCCCCAGGC...
XM_011524341.1:c.1410_1416+26delinsTGCCAAGGTGAGGCCCCAGGCTTTCAGCCTGGC
XM_005257058.4:c.1608_1614+26delinsTGCCAAGGTGAGGCCCCAGGCTTTCAGCCTGGC
XM_005257059.4:c.958-1662_958-1630delinsTGCCAAGGTGAGGCCCCAGGCTTTCAGCCTGGC	XP_005257116.2:n.958-1662_958-1630delinsTGCCAAGGTGAGGCCCCAGGC...
NM_000088.4:c.1608_1614+26delinsTGCCAAGGTGAGGCCCCAGGCTTTCAGCCTGGC