Canonical Allele Identifier: CA2263917615

Gene: COL1A1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50192824_50192827delinsAGCC , CM000679.2:g.50192824_50192827delinsAGCC	GRCh38
NC_000017.10:g.48270185_48270188delinsAGCC , CM000679.1:g.48270185_48270188delinsAGCC	GRCh37
NC_000017.9:g.45625184_45625187delinsAGCC	NCBI36
NG_007400.1:g.13813_13816delinsGGCT , LRG_1:g.13813_13816delinsGGCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225964.10:c.1845_1848delinsGGCT MANE Select	ENSP00000225964.6:p.Glu615=
ENST00000225964.9:c.1845_1848delinsGGCT	ENSP00000225964.5:p.Glu615=
ENST00000476387.1:n.194_197delinsGGCT
NM_000088.3:c.1845_1848delinsGGCT , LRG_1t1:c.1845_1848delinsGGCT	NP_000079.2:p.Glu615=
XM_005257058.3:c.1845_1848delinsGGCT	XP_005257115.2:p.Glu615=
XM_005257059.3:c.958-134_958-131delinsGGCT	XP_005257116.2:n.958-134_958-131delinsGGCT
XM_011524341.1:c.1647_1650delinsGGCT	XP_011522643.1:p.Glu549=
XM_005257058.4:c.1845_1848delinsGGCT	XP_005257115.2:p.Glu615=
XM_005257059.4:c.958-134_958-131delinsGGCT	XP_005257116.2:n.958-134_958-131delinsGGCT
NM_000088.4:c.1845_1848delinsGGCT MANE Select	NP_000079.2:p.Glu615=