Canonical Allele Identifier: CA2809757331

Gene: COL1A1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50195976_50195977insAGGGGGCCCGGCAGCACCAGTAGCACCATCATTTCCACGAGCACCAGCAGGGCCAGGGG , CM000679.2:g.50195976_50195977insAGGGGGCCCGGCAGCACCAGTAGCACCATCATTTCCACGAGCACCAGCAGGGCCAGGGG	GRCh38
NC_000017.10:g.48273337_48273338insAGGGGGCCCGGCAGCACCAGTAGCACCATCATTTCCACGAGCACCAGCAGGGCCAGGGG , CM000679.1:g.48273337_48273338insAGGGGGCCCGGCAGCACCAGTAGCACCATCATTTCCACGAGCACCAGCAGGGCCAGGGG	GRCh37
NC_000017.9:g.45628336_45628337insAGGGGGCCCGGCAGCACCAGTAGCACCATCATTTCCACGAGCACCAGCAGGGCCAGGGG	NCBI36
NG_007400.1:g.10663_10664insCCCCTGGCCCTGCTGGTGCTCGTGGAAATGATGGTGCTACTGGTGCTGCCGGGCCCCCT , LRG_1:g.10663_10664insCCCCTGGCCCTGCTGGTGCTCGTGGAAATGATGGTGCTACTGGTGCTGCCGGGCCCCCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225964.10:c.1003-1_1003insCCCCTGGCCCTGCTGGTGCTCGTGGAAATGATGGTGCTACTGGTGCTGCCGGGCCCCCT MANE Select	ENSP00000225964.6:n.1003-1_1003insCCCCTGGCCCTGCTGGTGCTCGTGGAA...
ENST00000225964.9:c.1003-1_1003insCCCCTGGCCCTGCTGGTGCTCGTGGAAATGATGGTGCTACTGGTGCTGCCGGGCCCCCT	ENSP00000225964.5:n.1003-1_1003insCCCCTGGCCCTGCTGGTGCTCGTGGAA...
NM_000088.3:c.1003-1_1003insCCCCTGGCCCTGCTGGTGCTCGTGGAAATGATGGTGCTACTGGTGCTGCCGGGCCCCCT , LRG_1t1:c.1003-1_1003insCCCCTGGCCCTGCTGGTGCTCGTGGAAATGATGGTGCTACTGGTGCTGCCGGGCCCCCT	NP_000079.2:n.1003-1_1003insCCCCTGGCCCTGCTGGTGCTCGTGGAAATGATG...
XM_005257058.3:c.1003-1_1003insCCCCTGGCCCTGCTGGTGCTCGTGGAAATGATGGTGCTACTGGTGCTGCCGGGCCCCCT	XP_005257115.2:n.1003-1_1003insCCCCTGGCCCTGCTGGTGCTCGTGGAAATG...
XM_005257059.3:c.957+337_957+338insCCCCTGGCCCTGCTGGTGCTCGTGGAAATGATGGTGCTACTGGTGCTGCCGGGCCCCCT	XP_005257116.2:n.957+337_957+338insCCCCTGGCCCTGCTGGTGCTCGTGGA...
XM_011524341.1:c.957+337_957+338insCCCCTGGCCCTGCTGGTGCTCGTGGAAATGATGGTGCTACTGGTGCTGCCGGGCCCCCT	XP_011522643.1:n.957+337_957+338insCCCCTGGCCCTGCTGGTGCTCGTGGA...
XM_005257058.4:c.1003-1_1003insCCCCTGGCCCTGCTGGTGCTCGTGGAAATGATGGTGCTACTGGTGCTGCCGGGCCCCCT	XP_005257115.2:n.1003-1_1003insCCCCTGGCCCTGCTGGTGCTCGTGGAAATG...
XM_005257059.4:c.957+337_957+338insCCCCTGGCCCTGCTGGTGCTCGTGGAAATGATGGTGCTACTGGTGCTGCCGGGCCCCCT	XP_005257116.2:n.957+337_957+338insCCCCTGGCCCTGCTGGTGCTCGTGGA...
NM_000088.4:c.1003-1_1003insCCCCTGGCCCTGCTGGTGCTCGTGGAAATGATGGTGCTACTGGTGCTGCCGGGCCCCCT MANE Select	NP_000079.2:n.1003-1_1003insCCCCTGGCCCTGCTGGTGCTCGTGGAAATGATG...