Canonical Allele Identifier: CA2263919163

Gene: COL1A1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50196267_50196268delinsGC , CM000679.2:g.50196267_50196268delinsGC	GRCh38
NC_000017.10:g.48273628_48273629delinsGC , CM000679.1:g.48273628_48273629delinsGC	GRCh37
NC_000017.9:g.45628627_45628628delinsGC	NCBI36
NG_007400.1:g.10372_10373delinsGC , LRG_1:g.10372_10373delinsGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225964.10:c.957+46_957+47delinsGC MANE Select	ENSP00000225964.6:n.957+46_957+47delinsGC
ENST00000225964.9:c.957+46_957+47delinsGC	ENSP00000225964.5:n.957+46_957+47delinsGC
ENST00000485870.1:n.282+46_282+47delinsGC
NM_000088.3:c.957+46_957+47delinsGC , LRG_1t1:c.957+46_957+47delinsGC	NP_000079.2:n.957+46_957+47delinsGC
XM_005257058.3:c.957+46_957+47delinsGC	XP_005257115.2:n.957+46_957+47delinsGC
XM_005257059.3:c.957+46_957+47delinsGC	XP_005257116.2:n.957+46_957+47delinsGC
XM_011524341.1:c.957+46_957+47delinsGC	XP_011522643.1:n.957+46_957+47delinsGC
XM_005257058.4:c.957+46_957+47delinsGC	XP_005257115.2:n.957+46_957+47delinsGC
XM_005257059.4:c.957+46_957+47delinsGC	XP_005257116.2:n.957+46_957+47delinsGC
NM_000088.4:c.957+46_957+47delinsGC MANE Select	NP_000079.2:n.957+46_957+47delinsGC