Canonical Allele Identifier: CA2263917240

Gene: COL1A1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50193000_50193001delinsGC , CM000679.2:g.50193000_50193001delinsGC	GRCh38
NC_000017.10:g.48270361_48270362delinsGC , CM000679.1:g.48270361_48270362delinsGC	GRCh37
NC_000017.9:g.45625360_45625361delinsGC	NCBI36
NG_007400.1:g.13639_13640delinsGC , LRG_1:g.13639_13640delinsGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225964.10:c.1814_1815delinsGC MANE Select	ENSP00000225964.6:p.Gly605=
ENST00000225964.9:c.1814_1815delinsGC	ENSP00000225964.5:p.Gly605=
ENST00000476387.1:n.163_164delinsGC
NM_000088.3:c.1814_1815delinsGC , LRG_1t1:c.1814_1815delinsGC	NP_000079.2:p.Gly605=
XM_005257058.3:c.1814_1815delinsGC	XP_005257115.2:p.Gly605=
XM_005257059.3:c.958-308_958-307delinsGC	XP_005257116.2:n.958-308_958-307delinsGC
XM_011524341.1:c.1616_1617delinsGC	XP_011522643.1:p.Gly539=
XM_005257058.4:c.1814_1815delinsGC	XP_005257115.2:p.Gly605=
XM_005257059.4:c.958-308_958-307delinsGC	XP_005257116.2:n.958-308_958-307delinsGC
NM_000088.4:c.1814_1815delinsGC MANE Select	NP_000079.2:p.Gly605=