Canonical Allele Identifier: CA2263917414

Gene: COL1A1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50193179_50193180delinsGC , CM000679.2:g.50193179_50193180delinsGC	GRCh38
NC_000017.10:g.48270540_48270541delinsGC , CM000679.1:g.48270540_48270541delinsGC	GRCh37
NC_000017.9:g.45625539_45625540delinsGC	NCBI36
NG_007400.1:g.13460_13461delinsGC , LRG_1:g.13460_13461delinsGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225964.10:c.1768-133_1768-132delinsGC MANE Select	ENSP00000225964.6:n.1768-133_1768-132delinsGC
ENST00000225964.9:c.1768-133_1768-132delinsGC	ENSP00000225964.5:n.1768-133_1768-132delinsGC
ENST00000476387.1:n.117-133_117-132delinsGC
NM_000088.3:c.1768-133_1768-132delinsGC , LRG_1t1:c.1768-133_1768-132delinsGC	NP_000079.2:n.1768-133_1768-132delinsGC
XM_005257058.3:c.1768-133_1768-132delinsGC	XP_005257115.2:n.1768-133_1768-132delinsGC
XM_005257059.3:c.958-487_958-486delinsGC	XP_005257116.2:n.958-487_958-486delinsGC
XM_011524341.1:c.1570-133_1570-132delinsGC	XP_011522643.1:n.1570-133_1570-132delinsGC
XM_005257058.4:c.1768-133_1768-132delinsGC	XP_005257115.2:n.1768-133_1768-132delinsGC
XM_005257059.4:c.958-487_958-486delinsGC	XP_005257116.2:n.958-487_958-486delinsGC
NM_000088.4:c.1768-133_1768-132delinsGC MANE Select	NP_000079.2:n.1768-133_1768-132delinsGC