Canonical Allele Identifier: CA2263917467

Gene: COL1A1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50193256_50193257delinsTC , CM000679.2:g.50193256_50193257delinsTC	GRCh38
NC_000017.10:g.48270617_48270618delinsTC , CM000679.1:g.48270617_48270618delinsTC	GRCh37
NC_000017.9:g.45625616_45625617delinsTC	NCBI36
NG_007400.1:g.13383_13384delinsGA , LRG_1:g.13383_13384delinsGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225964.10:c.1768-210_1768-209delinsGA MANE Select	ENSP00000225964.6:n.1768-210_1768-209delinsGA
ENST00000225964.9:c.1768-210_1768-209delinsGA	ENSP00000225964.5:n.1768-210_1768-209delinsGA
ENST00000476387.1:n.117-210_117-209delinsGA
NM_000088.3:c.1768-210_1768-209delinsGA , LRG_1t1:c.1768-210_1768-209delinsGA	NP_000079.2:n.1768-210_1768-209delinsGA
XM_005257058.3:c.1768-210_1768-209delinsGA	XP_005257115.2:n.1768-210_1768-209delinsGA
XM_005257059.3:c.958-564_958-563delinsGA	XP_005257116.2:n.958-564_958-563delinsGA
XM_011524341.1:c.1570-210_1570-209delinsGA	XP_011522643.1:n.1570-210_1570-209delinsGA
XM_005257058.4:c.1768-210_1768-209delinsGA	XP_005257115.2:n.1768-210_1768-209delinsGA
XM_005257059.4:c.958-564_958-563delinsGA	XP_005257116.2:n.958-564_958-563delinsGA
NM_000088.4:c.1768-210_1768-209delinsGA MANE Select	NP_000079.2:n.1768-210_1768-209delinsGA