Canonical Allele Identifier: CA2263918394

Gene: COL1A1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50194799_50194800delinsGC , CM000679.2:g.50194799_50194800delinsGC	GRCh38
NC_000017.10:g.48272160_48272161delinsGC , CM000679.1:g.48272160_48272161delinsGC	GRCh37
NC_000017.9:g.45627159_45627160delinsGC	NCBI36
NG_007400.1:g.11840_11841delinsGC , LRG_1:g.11840_11841delinsGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225964.10:c.1382_1383delinsGC MANE Select	ENSP00000225964.6:p.Gly461=
ENST00000225964.9:c.1382_1383delinsGC	ENSP00000225964.5:p.Gly461=
ENST00000471344.1:n.326_327delinsGC
NM_000088.3:c.1382_1383delinsGC , LRG_1t1:c.1382_1383delinsGC	NP_000079.2:p.Gly461=
XM_005257058.3:c.1382_1383delinsGC	XP_005257115.2:p.Gly461=
XM_005257059.3:c.957+1514_957+1515delinsGC	XP_005257116.2:n.957+1514_957+1515delinsGC
XM_011524341.1:c.1184_1185delinsGC	XP_011522643.1:p.Gly395=
XM_005257058.4:c.1382_1383delinsGC	XP_005257115.2:p.Gly461=
XM_005257059.4:c.957+1514_957+1515delinsGC	XP_005257116.2:n.957+1514_957+1515delinsGC
NM_000088.4:c.1382_1383delinsGC MANE Select	NP_000079.2:p.Gly461=