Canonical Allele Identifier: CA658653841

Gene: COL1A1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50190861_50190862delinsTG , CM000679.2:g.50190861_50190862delinsTG	GRCh38
NC_000017.10:g.48268222_48268223delinsTG , CM000679.1:g.48268222_48268223delinsTG	GRCh37
NC_000017.9:g.45623221_45623222delinsTG	NCBI36
NG_007400.1:g.15778_15779delinsCA , LRG_1:g.15778_15779delinsCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225964.10:c.2298_2299delinsCA MANE Select	ENSP00000225964.6:p.Gly767Ser
ENST00000225964.9:c.2298_2299delinsCA	ENSP00000225964.5:p.Gly767Ser
ENST00000494334.1:n.63_64delinsCA
NM_000088.3:c.2298_2299delinsCA , LRG_1t1:c.2298_2299delinsCA	NP_000079.2:p.Gly767Ser
XM_005257058.3:c.2298_2299delinsCA	XP_005257115.2:p.Gly767Ser
XM_005257059.3:c.1380_1381delinsCA	XP_005257116.2:p.Gly461Ser
XM_011524341.1:c.2100_2101delinsCA	XP_011522643.1:p.Gly701Ser
XM_005257058.4:c.2298_2299delinsCA	XP_005257115.2:p.Gly767Ser
XM_005257059.4:c.1380_1381delinsCA	XP_005257116.2:p.Gly461Ser
NM_000088.4:c.2298_2299delinsCA MANE Select	NP_000079.2:p.Gly767Ser