Canonical Allele Identifier: CA2638681153

Gene: COL1A1

Linked Data

• gnomAD v4: 17-50199095-TGA-T

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50199099_50199100del , CM000679.2:g.50199099_50199100del	GRCh38
NC_000017.10:g.48276460_48276461del , CM000679.1:g.48276460_48276461del	GRCh37
NC_000017.9:g.45631459_45631460del	NCBI36
NG_007400.1:g.7543_7544del , LRG_1:g.7543_7544del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225964.10:c.471+129_471+130del MANE Select	ENSP00000225964.6:n.471+129_471+130del
ENST00000225964.9:c.471+129_471+130del	ENSP00000225964.5:n.471+129_471+130del
NM_000088.3:c.471+129_471+130del , LRG_1t1:c.471+129_471+130del	NP_000079.2:n.471+129_471+130del
XM_005257058.3:c.471+129_471+130del	XP_005257115.2:n.471+129_471+130del
XM_005257059.3:c.471+129_471+130del	XP_005257116.2:n.471+129_471+130del
XM_011524341.1:c.471+129_471+130del	XP_011522643.1:n.471+129_471+130del
XM_005257058.4:c.471+129_471+130del	XP_005257115.2:n.471+129_471+130del
XM_005257059.4:c.471+129_471+130del	XP_005257116.2:n.471+129_471+130del
NM_000088.4:c.471+129_471+130del MANE Select	NP_000079.2:n.471+129_471+130del