Canonical Allele Identifier: CA2263920571

Gene: COL1A1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50199190_50199192delinsCAG , CM000679.2:g.50199190_50199192delinsCAG	GRCh38
NC_000017.10:g.48276551_48276553delinsCAG , CM000679.1:g.48276551_48276553delinsCAG	GRCh37
NC_000017.9:g.45631550_45631552delinsCAG	NCBI36
NG_007400.1:g.7448_7450delinsCTG , LRG_1:g.7448_7450delinsCTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225964.10:c.471+34_471+36delinsCTG MANE Select	ENSP00000225964.6:n.471+34_471+36delinsCTG
ENST00000225964.9:c.471+34_471+36delinsCTG	ENSP00000225964.5:n.471+34_471+36delinsCTG
NM_000088.3:c.471+34_471+36delinsCTG , LRG_1t1:c.471+34_471+36delinsCTG	NP_000079.2:n.471+34_471+36delinsCTG
XM_005257058.3:c.471+34_471+36delinsCTG	XP_005257115.2:n.471+34_471+36delinsCTG
XM_005257059.3:c.471+34_471+36delinsCTG	XP_005257116.2:n.471+34_471+36delinsCTG
XM_011524341.1:c.471+34_471+36delinsCTG	XP_011522643.1:n.471+34_471+36delinsCTG
XM_005257058.4:c.471+34_471+36delinsCTG	XP_005257115.2:n.471+34_471+36delinsCTG
XM_005257059.4:c.471+34_471+36delinsCTG	XP_005257116.2:n.471+34_471+36delinsCTG
NM_000088.4:c.471+34_471+36delinsCTG MANE Select	NP_000079.2:n.471+34_471+36delinsCTG