Canonical Allele Identifier: CA2809770991

Gene: COL1A1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50199179_50199181del , CM000679.2:g.50199179_50199181del	GRCh38
NC_000017.10:g.48276540_48276542del , CM000679.1:g.48276540_48276542del	GRCh37
NC_000017.9:g.45631539_45631541del	NCBI36
NG_007400.1:g.7461_7463del , LRG_1:g.7461_7463del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225964.10:c.471+47_471+49del MANE Select	ENSP00000225964.6:n.471+47_471+49del
ENST00000225964.9:c.471+47_471+49del	ENSP00000225964.5:n.471+47_471+49del
NM_000088.3:c.471+47_471+49del , LRG_1t1:c.471+47_471+49del	NP_000079.2:n.471+47_471+49del
XM_005257058.3:c.471+47_471+49del	XP_005257115.2:n.471+47_471+49del
XM_005257059.3:c.471+47_471+49del	XP_005257116.2:n.471+47_471+49del
XM_011524341.1:c.471+47_471+49del	XP_011522643.1:n.471+47_471+49del
XM_005257058.4:c.471+47_471+49del	XP_005257115.2:n.471+47_471+49del
XM_005257059.4:c.471+47_471+49del	XP_005257116.2:n.471+47_471+49del
NM_000088.4:c.471+47_471+49del MANE Select	NP_000079.2:n.471+47_471+49del