Canonical Allele Identifier: CA2809757592

Gene: COL1A1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50188129_50188130insGCA , CM000679.2:g.50188129_50188130insGCA	GRCh38
NC_000017.10:g.48265490_48265491insGCA , CM000679.1:g.48265490_48265491insGCA	GRCh37
NC_000017.9:g.45620489_45620490insGCA	NCBI36
NG_007400.1:g.18511_18512insGCT , LRG_1:g.18511_18512insGCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225964.10:c.3228_3229insGCT MANE Select	ENSP00000225964.6:p.Gly1076_Pro1077insAla
ENST00000225964.9:c.3228_3229insGCT	ENSP00000225964.5:p.Gly1076_Pro1077insAla
ENST00000486572.1:n.426_427insGCT
ENST00000511732.1:n.552_553insGCT
NM_000088.3:c.3228_3229insGCT , LRG_1t1:c.3228_3229insGCT	NP_000079.2:p.Gly1076_Pro1077insAla
XM_005257058.3:c.2958_2959insGCT	XP_005257115.2:p.Gly986_Pro987insAla
XM_005257059.3:c.2310_2311insGCT	XP_005257116.2:p.Gly770_Pro771insAla
XM_011524341.1:c.3030_3031insGCT	XP_011522643.1:p.Gly1010_Pro1011insAla
XM_005257058.4:c.2958_2959insGCT	XP_005257115.2:p.Gly986_Pro987insAla
XM_005257059.4:c.2310_2311insGCT	XP_005257116.2:p.Gly770_Pro771insAla
NM_000088.4:c.3228_3229insGCT MANE Select	NP_000079.2:p.Gly1076_Pro1077insAla