Canonical Allele Identifier: CA2263918270

Gene: COL1A1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50194600_50194602delinsAGG , CM000679.2:g.50194600_50194602delinsAGG	GRCh38
NC_000017.10:g.48271961_48271963delinsAGG , CM000679.1:g.48271961_48271963delinsAGG	GRCh37
NC_000017.9:g.45626960_45626962delinsAGG	NCBI36
NG_007400.1:g.12038_12040delinsCCT , LRG_1:g.12038_12040delinsCCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225964.10:c.1486_1488delinsCCT MANE Select	ENSP00000225964.6:p.Pro496=
ENST00000225964.9:c.1486_1488delinsCCT	ENSP00000225964.5:p.Pro496=
ENST00000471344.1:n.430_432delinsCCT
NM_000088.3:c.1486_1488delinsCCT , LRG_1t1:c.1486_1488delinsCCT	NP_000079.2:p.Pro496=
XM_005257058.3:c.1486_1488delinsCCT	XP_005257115.2:p.Pro496=
XM_005257059.3:c.957+1712_957+1714delinsCCT	XP_005257116.2:n.957+1712_957+1714delinsCCT
XM_011524341.1:c.1288_1290delinsCCT	XP_011522643.1:p.Pro430=
XM_005257058.4:c.1486_1488delinsCCT	XP_005257115.2:p.Pro496=
XM_005257059.4:c.957+1712_957+1714delinsCCT	XP_005257116.2:n.957+1712_957+1714delinsCCT
NM_000088.4:c.1486_1488delinsCCT MANE Select	NP_000079.2:p.Pro496=