Canonical Allele Identifier: CA2809770992

Gene: COL1A1

Genomic Alleles

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

Transcript Alleles

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