Canonical Allele Identifier: CA2695226413

Gene: COL1A1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50185559_50185574dup , CM000679.2:g.50185559_50185574dup	GRCh38
NC_000017.10:g.48262920_48262935dup , CM000679.1:g.48262920_48262935dup	GRCh37
NC_000017.9:g.45617919_45617934dup	NCBI36
NG_007400.1:g.21066_21081dup , LRG_1:g.21066_21081dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225964.10:c.4323_4338dup MANE Select	ENSP00000225964.6:p.Val1447CysfsTer?
ENST00000225964.9:c.4323_4338dup	ENSP00000225964.5:p.Val1447CysfsTer?
NM_000088.3:c.4323_4338dup , LRG_1t1:c.4323_4338dup	NP_000079.2:p.Val1447CysfsTer?
XM_005257058.3:c.4053_4068dup	XP_005257115.2:p.Val1357CysfsTer?
XM_005257059.3:c.3405_3420dup	XP_005257116.2:p.Val1141CysfsTer?
XM_011524341.1:c.4125_4140dup	XP_011522643.1:p.Val1381CysfsTer?
XM_005257058.4:c.4053_4068dup	XP_005257115.2:p.Val1357CysfsTer?
XM_005257059.4:c.3405_3420dup	XP_005257116.2:p.Val1141CysfsTer?
NM_000088.4:c.4323_4338dup MANE Select	NP_000079.2:p.Val1447CysfsTer?