Canonical Allele Identifier: CA2263918339

Gene: COL1A1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50194703_50194704delinsGC , CM000679.2:g.50194703_50194704delinsGC	GRCh38
NC_000017.10:g.48272064_48272065delinsGC , CM000679.1:g.48272064_48272065delinsGC	GRCh37
NC_000017.9:g.45627063_45627064delinsGC	NCBI36
NG_007400.1:g.11936_11937delinsGC , LRG_1:g.11936_11937delinsGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225964.10:c.1461+17_1461+18delinsGC MANE Select	ENSP00000225964.6:n.1461+17_1461+18delinsGC
ENST00000225964.9:c.1461+17_1461+18delinsGC	ENSP00000225964.5:n.1461+17_1461+18delinsGC
ENST00000471344.1:n.405+17_405+18delinsGC
NM_000088.3:c.1461+17_1461+18delinsGC , LRG_1t1:c.1461+17_1461+18delinsGC	NP_000079.2:n.1461+17_1461+18delinsGC
XM_005257058.3:c.1461+17_1461+18delinsGC	XP_005257115.2:n.1461+17_1461+18delinsGC
XM_005257059.3:c.957+1610_957+1611delinsGC	XP_005257116.2:n.957+1610_957+1611delinsGC
XM_011524341.1:c.1263+17_1263+18delinsGC	XP_011522643.1:n.1263+17_1263+18delinsGC
XM_005257058.4:c.1461+17_1461+18delinsGC	XP_005257115.2:n.1461+17_1461+18delinsGC
XM_005257059.4:c.957+1610_957+1611delinsGC	XP_005257116.2:n.957+1610_957+1611delinsGC
NM_000088.4:c.1461+17_1461+18delinsGC MANE Select	NP_000079.2:n.1461+17_1461+18delinsGC