Canonical Allele Identifier: CA2263916155

Gene: COL1A1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50190333_50190334delinsGC , CM000679.2:g.50190333_50190334delinsGC	GRCh38
NC_000017.10:g.48267694_48267695delinsGC , CM000679.1:g.48267694_48267695delinsGC	GRCh37
NC_000017.9:g.45622693_45622694delinsGC	NCBI36
NG_007400.1:g.16306_16307delinsGC , LRG_1:g.16306_16307delinsGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225964.10:c.2444_2445delinsGC MANE Select	ENSP00000225964.6:p.Gly815=
ENST00000225964.9:c.2444_2445delinsGC	ENSP00000225964.5:p.Gly815=
ENST00000494334.1:n.371_372delinsGC
NM_000088.3:c.2444_2445delinsGC , LRG_1t1:c.2444_2445delinsGC	NP_000079.2:p.Gly815=
XM_005257058.3:c.2444_2445delinsGC	XP_005257115.2:p.Gly815=
XM_005257059.3:c.1526_1527delinsGC	XP_005257116.2:p.Gly509=
XM_011524341.1:c.2246_2247delinsGC	XP_011522643.1:p.Gly749=
XM_005257058.4:c.2444_2445delinsGC	XP_005257115.2:p.Gly815=
XM_005257059.4:c.1526_1527delinsGC	XP_005257116.2:p.Gly509=
NM_000088.4:c.2444_2445delinsGC MANE Select	NP_000079.2:p.Gly815=