Canonical Allele Identifier: CA2695226556

Gene: COL1A1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50199285_50199288del , CM000679.2:g.50199285_50199288del	GRCh38
NC_000017.10:g.48276646_48276649del , CM000679.1:g.48276646_48276649del	GRCh37
NC_000017.9:g.45631645_45631648del	NCBI36
NG_007400.1:g.7353_7356del , LRG_1:g.7353_7356del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225964.10:c.410_413del MANE Select	ENSP00000225964.6:p.Gln137LeufsTer?
ENST00000225964.9:c.410_413del	ENSP00000225964.5:p.Gln137LeufsTer?
ENST00000474644.1:n.631_634del
NM_000088.3:c.410_413del , LRG_1t1:c.410_413del	NP_000079.2:p.Gln137LeufsTer?
XM_005257058.3:c.410_413del	XP_005257115.2:p.Gln137LeufsTer?
XM_005257059.3:c.410_413del	XP_005257116.2:p.Gln137LeufsTer?
XM_011524341.1:c.410_413del	XP_011522643.1:p.Gln137LeufsTer?
XM_005257058.4:c.410_413del	XP_005257115.2:p.Gln137LeufsTer?
XM_005257059.4:c.410_413del	XP_005257116.2:p.Gln137LeufsTer?
NM_000088.4:c.410_413del MANE Select	NP_000079.2:p.Gln137LeufsTer?