Canonical Allele Identifier: CA2263920393

Gene: COL1A1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50198718_50198725delinsATCAAAAC , CM000679.2:g.50198718_50198725delinsATCAAAAC	GRCh38
NC_000017.10:g.48276079_48276086delinsATCAAAAC , CM000679.1:g.48276079_48276086delinsATCAAAAC	GRCh37
NC_000017.9:g.45631078_45631085delinsATCAAAAC	NCBI36
NG_007400.1:g.7915_7922delinsGTTTTGAT , LRG_1:g.7915_7922delinsGTTTTGAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225964.10:c.472-221_472-214delinsGTTTTGAT MANE Select	ENSP00000225964.6:n.472-221_472-214delinsGTTTTGAT
ENST00000225964.9:c.472-221_472-214delinsGTTTTGAT	ENSP00000225964.5:n.472-221_472-214delinsGTTTTGAT
NM_000088.3:c.472-221_472-214delinsGTTTTGAT , LRG_1t1:c.472-221_472-214delinsGTTTTGAT	NP_000079.2:n.472-221_472-214delinsGTTTTGAT
XM_005257058.3:c.472-221_472-214delinsGTTTTGAT	XP_005257115.2:n.472-221_472-214delinsGTTTTGAT
XM_005257059.3:c.472-221_472-214delinsGTTTTGAT	XP_005257116.2:n.472-221_472-214delinsGTTTTGAT
XM_011524341.1:c.472-221_472-214delinsGTTTTGAT	XP_011522643.1:n.472-221_472-214delinsGTTTTGAT
XM_005257058.4:c.472-221_472-214delinsGTTTTGAT	XP_005257115.2:n.472-221_472-214delinsGTTTTGAT
XM_005257059.4:c.472-221_472-214delinsGTTTTGAT	XP_005257116.2:n.472-221_472-214delinsGTTTTGAT
NM_000088.4:c.472-221_472-214delinsGTTTTGAT MANE Select	NP_000079.2:n.472-221_472-214delinsGTTTTGAT