Canonical Allele Identifier: CA2263917500

Gene: COL1A1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50192682_50192683delinsGC , CM000679.2:g.50192682_50192683delinsGC	GRCh38
NC_000017.10:g.48270043_48270044delinsGC , CM000679.1:g.48270043_48270044delinsGC	GRCh37
NC_000017.9:g.45625042_45625043delinsGC	NCBI36
NG_007400.1:g.13957_13958delinsGC , LRG_1:g.13957_13958delinsGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225964.10:c.1886_1887delinsGC MANE Select	ENSP00000225964.6:p.Gly629=
ENST00000225964.9:c.1886_1887delinsGC	ENSP00000225964.5:p.Gly629=
ENST00000476387.1:n.235_236delinsGC
NM_000088.3:c.1886_1887delinsGC , LRG_1t1:c.1886_1887delinsGC	NP_000079.2:p.Gly629=
XM_005257058.3:c.1886_1887delinsGC	XP_005257115.2:p.Gly629=
XM_005257059.3:c.968_969delinsGC	XP_005257116.2:p.Gly323=
XM_011524341.1:c.1688_1689delinsGC	XP_011522643.1:p.Gly563=
XM_005257058.4:c.1886_1887delinsGC	XP_005257115.2:p.Gly629=
XM_005257059.4:c.968_969delinsGC	XP_005257116.2:p.Gly323=
NM_000088.4:c.1886_1887delinsGC MANE Select	NP_000079.2:p.Gly629=