Canonical Allele Identifier: CA500848859

Gene: COL1A1

Linked Data

• MyVariant Identifiers: chr17:g.48271546_48271547insTGGCACC (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50194185_50194186insTGGCACC , CM000679.2:g.50194185_50194186insTGGCACC	GRCh38
NC_000017.10:g.48271546_48271547insTGGCACC , CM000679.1:g.48271546_48271547insTGGCACC	GRCh37
NC_000017.9:g.45626545_45626546insTGGCACC	NCBI36
NG_007400.1:g.12454_12455insGGTGCCA , LRG_1:g.12454_12455insGGTGCCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225964.10:c.1615-3_1615-2insGGTGCCA MANE Select	ENSP00000225964.6:n.1615-3_1615-2insGGTGCCA
ENST00000225964.9:c.1615-3_1615-2insGGTGCCA	ENSP00000225964.5:n.1615-3_1615-2insGGTGCCA
ENST00000463440.1:n.5-3_5-2insGGTGCCA
ENST00000471344.1:n.559-3_559-2insGGTGCCA
NM_000088.3:c.1615-3_1615-2insGGTGCCA , LRG_1t1:c.1615-3_1615-2insGGTGCCA	NP_000079.2:n.1615-3_1615-2insGGTGCCA
XM_005257058.3:c.1615-3_1615-2insGGTGCCA	XP_005257115.2:n.1615-3_1615-2insGGTGCCA
XM_005257059.3:c.958-1493_958-1492insGGTGCCA	XP_005257116.2:n.958-1493_958-1492insGGTGCCA
XM_011524341.1:c.1417-3_1417-2insGGTGCCA	XP_011522643.1:n.1417-3_1417-2insGGTGCCA
XM_005257058.4:c.1615-3_1615-2insGGTGCCA	XP_005257115.2:n.1615-3_1615-2insGGTGCCA
XM_005257059.4:c.958-1493_958-1492insGGTGCCA	XP_005257116.2:n.958-1493_958-1492insGGTGCCA
NM_000088.4:c.1615-3_1615-2insGGTGCCA MANE Select	NP_000079.2:n.1615-3_1615-2insGGTGCCA