Canonical Allele Identifier: CA2638710192

Gene: COL1A1

Linked Data

• gnomAD v4: 17-50194233-G-GTCCTCCCCCACCTCCATCAT

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50194233_50194234insTCCTCCCCCACCTCCATCAT , CM000679.2:g.50194233_50194234insTCCTCCCCCACCTCCATCAT	GRCh38
NC_000017.10:g.48271594_48271595insTCCTCCCCCACCTCCATCAT , CM000679.1:g.48271594_48271595insTCCTCCCCCACCTCCATCAT	GRCh37
NC_000017.9:g.45626593_45626594insTCCTCCCCCACCTCCATCAT	NCBI36
NG_007400.1:g.12406_12407insATGATGGAGGTGGGGGAGGA , LRG_1:g.12406_12407insATGATGGAGGTGGGGGAGGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225964.10:c.1615-51_1615-50insATGATGGAGGTGGGGGAGGA MANE Select	ENSP00000225964.6:n.1615-51_1615-50insATGATGGAGGTGGGGGAGGA
ENST00000225964.9:c.1615-51_1615-50insATGATGGAGGTGGGGGAGGA	ENSP00000225964.5:n.1615-51_1615-50insATGATGGAGGTGGGGGAGGA
ENST00000463440.1:n.5-51_5-50insATGATGGAGGTGGGGGAGGA
ENST00000471344.1:n.559-51_559-50insATGATGGAGGTGGGGGAGGA
NM_000088.3:c.1615-51_1615-50insATGATGGAGGTGGGGGAGGA , LRG_1t1:c.1615-51_1615-50insATGATGGAGGTGGGGGAGGA	NP_000079.2:n.1615-51_1615-50insATGATGGAGGTGGGGGAGGA
XM_005257058.3:c.1615-51_1615-50insATGATGGAGGTGGGGGAGGA	XP_005257115.2:n.1615-51_1615-50insATGATGGAGGTGGGGGAGGA
XM_005257059.3:c.958-1541_958-1540insATGATGGAGGTGGGGGAGGA	XP_005257116.2:n.958-1541_958-1540insATGATGGAGGTGGGGGAGGA
XM_011524341.1:c.1417-51_1417-50insATGATGGAGGTGGGGGAGGA	XP_011522643.1:n.1417-51_1417-50insATGATGGAGGTGGGGGAGGA
XM_005257058.4:c.1615-51_1615-50insATGATGGAGGTGGGGGAGGA	XP_005257115.2:n.1615-51_1615-50insATGATGGAGGTGGGGGAGGA
XM_005257059.4:c.958-1541_958-1540insATGATGGAGGTGGGGGAGGA	XP_005257116.2:n.958-1541_958-1540insATGATGGAGGTGGGGGAGGA
NM_000088.4:c.1615-51_1615-50insATGATGGAGGTGGGGGAGGA MANE Select	NP_000079.2:n.1615-51_1615-50insATGATGGAGGTGGGGGAGGA