Canonical Allele Identifier: CA2695226415

Gene: COL1A1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50185576_50185577insCTTGGGCCACATC , CM000679.2:g.50185576_50185577insCTTGGGCCACATC	GRCh38
NC_000017.10:g.48262937_48262938insCTTGGGCCACATC , CM000679.1:g.48262937_48262938insCTTGGGCCACATC	GRCh37
NC_000017.9:g.45617936_45617937insCTTGGGCCACATC	NCBI36
NG_007400.1:g.21073_21074insAAGGATGTGGCCC , LRG_1:g.21073_21074insAAGGATGTGGCCC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225964.10:c.4330_4331insAAGGATGTGGCCC MANE Select	ENSP00000225964.6:p.Pro1444GlnfsTer?
ENST00000225964.9:c.4330_4331insAAGGATGTGGCCC	ENSP00000225964.5:p.Pro1444GlnfsTer?
NM_000088.3:c.4330_4331insAAGGATGTGGCCC , LRG_1t1:c.4330_4331insAAGGATGTGGCCC	NP_000079.2:p.Pro1444GlnfsTer?
XM_005257058.3:c.4060_4061insAAGGATGTGGCCC	XP_005257115.2:p.Pro1354GlnfsTer?
XM_005257059.3:c.3412_3413insAAGGATGTGGCCC	XP_005257116.2:p.Pro1138GlnfsTer?
XM_011524341.1:c.4132_4133insAAGGATGTGGCCC	XP_011522643.1:p.Pro1378GlnfsTer?
XM_005257058.4:c.4060_4061insAAGGATGTGGCCC	XP_005257115.2:p.Pro1354GlnfsTer?
XM_005257059.4:c.3412_3413insAAGGATGTGGCCC	XP_005257116.2:p.Pro1138GlnfsTer?
NM_000088.4:c.4330_4331insAAGGATGTGGCCC MANE Select	NP_000079.2:p.Pro1444GlnfsTer?