Canonical Allele Identifier: CA2638704599

Gene: COL1A1

Linked Data

• gnomAD v4: 17-50185734-AG-A

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50185736del , CM000679.2:g.50185736del	GRCh38
NC_000017.10:g.48263097del , CM000679.1:g.48263097del	GRCh37
NC_000017.9:g.45618096del	NCBI36
NG_007400.1:g.20905del , LRG_1:g.20905del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225964.10:c.4248+43del MANE Select	ENSP00000225964.6:n.4248+43del
ENST00000225964.9:c.4248+43del	ENSP00000225964.5:n.4248+43del
NM_000088.3:c.4248+43del , LRG_1t1:c.4248+43del	NP_000079.2:n.4248+43del
XM_005257058.3:c.3978+43del	XP_005257115.2:n.3978+43del
XM_005257059.3:c.3330+43del	XP_005257116.2:n.3330+43del
XM_011524341.1:c.4050+43del	XP_011522643.1:n.4050+43del
XM_005257058.4:c.3978+43del	XP_005257115.2:n.3978+43del
XM_005257059.4:c.3330+43del	XP_005257116.2:n.3330+43del
NM_000088.4:c.4248+43del MANE Select	NP_000079.2:n.4248+43del