Canonical Allele Identifier: CA915950604

Gene: COL1A1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50189432_50189440del , CM000679.2:g.50189432_50189440del	GRCh38
NC_000017.10:g.48266793_48266801del , CM000679.1:g.48266793_48266801del	GRCh37
NC_000017.9:g.45621792_45621800del	NCBI36
NG_007400.1:g.17212_17220del , LRG_1:g.17212_17220del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225964.10:c.2778_2786del MANE Select	ENSP00000225964.6:p.Pro927_Gly929del
ENST00000225964.9:c.2778_2786del	ENSP00000225964.5:p.Pro927_Gly929del
NM_000088.3:c.2778_2786del , LRG_1t1:c.2778_2786del	NP_000079.2:p.Pro927_Gly929del
XM_005257058.3:c.2667+251_2667+259del	XP_005257115.2:n.2667+251_2667+259del
XM_005257059.3:c.1860_1868del	XP_005257116.2:p.Pro621_Gly623del
XM_011524341.1:c.2580_2588del	XP_011522643.1:p.Pro861_Gly863del
XM_005257058.4:c.2667+251_2667+259del	XP_005257115.2:n.2667+251_2667+259del
XM_005257059.4:c.1860_1868del	XP_005257116.2:p.Pro621_Gly623del
NM_000088.4:c.2778_2786del MANE Select	NP_000079.2:p.Pro927_Gly929del