Canonical Allele Identifier: CA984451695

Gene: COL1A1

Linked Data

• dbSNP Id: rs1907822726
• gnomAD v3: 17-50198885-CT-C
• gnomAD v4: 17-50198885-CT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50198888del , CM000679.2:g.50198888del	GRCh38
NC_000017.10:g.48276249del , CM000679.1:g.48276249del	GRCh37
NC_000017.9:g.45631248del	NCBI36
NG_007400.1:g.7754del , LRG_1:g.7754del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225964.10:c.471+340del MANE Select	ENSP00000225964.6:n.471+340del
ENST00000225964.9:c.471+340del	ENSP00000225964.5:n.471+340del
NM_000088.3:c.471+340del , LRG_1t1:c.471+340del	NP_000079.2:n.471+340del
XM_005257058.3:c.471+340del	XP_005257115.2:n.471+340del
XM_005257059.3:c.471+340del	XP_005257116.2:n.471+340del
XM_011524341.1:c.471+340del	XP_011522643.1:n.471+340del
XM_005257058.4:c.471+340del	XP_005257115.2:n.471+340del
XM_005257059.4:c.471+340del	XP_005257116.2:n.471+340del
NM_000088.4:c.471+340del MANE Select	NP_000079.2:n.471+340del