Canonical Allele Identifier: CA984452221

Gene: COL1A1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50185561_50185562del , CM000679.2:g.50185561_50185562del	GRCh38
NC_000017.10:g.48262922_48262923del , CM000679.1:g.48262922_48262923del	GRCh37
NC_000017.9:g.45617921_45617922del	NCBI36
NG_007400.1:g.21078_21079del , LRG_1:g.21078_21079del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225964.10:c.4335_4336del MANE Select	ENSP00000225964.6:p.Asp1446ArgfsTer?
ENST00000225964.9:c.4335_4336del	ENSP00000225964.5:p.Asp1446ArgfsTer?
NM_000088.3:c.4335_4336del , LRG_1t1:c.4335_4336del	NP_000079.2:p.Asp1446ArgfsTer?
XM_005257058.3:c.4065_4066del	XP_005257115.2:p.Asp1356ArgfsTer?
XM_005257059.3:c.3417_3418del	XP_005257116.2:p.Asp1140ArgfsTer?
XM_011524341.1:c.4137_4138del	XP_011522643.1:p.Asp1380ArgfsTer?
XM_005257058.4:c.4065_4066del	XP_005257115.2:p.Asp1356ArgfsTer?
XM_005257059.4:c.3417_3418del	XP_005257116.2:p.Asp1140ArgfsTer?
NM_000088.4:c.4335_4336del MANE Select	NP_000079.2:p.Asp1446ArgfsTer?