Canonical Allele Identifier: CA2576317481

Gene: COL1A1

Linked Data

• gnomAD v4: 17-50196708-A-AG

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50196713dup , CM000679.2:g.50196713dup	GRCh38
NC_000017.10:g.48274074dup , CM000679.1:g.48274074dup	GRCh37
NC_000017.9:g.45629073dup	NCBI36
NG_007400.1:g.9931dup , LRG_1:g.9931dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225964.10:c.805-39dup MANE Select	ENSP00000225964.6:n.805-39dup
ENST00000225964.9:c.805-39dup	ENSP00000225964.5:n.805-39dup
ENST00000495677.1:n.532-39dup
NM_000088.3:c.805-39dup , LRG_1t1:c.805-39dup	NP_000079.2:n.805-39dup
XM_005257058.3:c.805-39dup	XP_005257115.2:n.805-39dup
XM_005257059.3:c.805-39dup	XP_005257116.2:n.805-39dup
XM_011524341.1:c.805-39dup	XP_011522643.1:n.805-39dup
XM_005257058.4:c.805-39dup	XP_005257115.2:n.805-39dup
XM_005257059.4:c.805-39dup	XP_005257116.2:n.805-39dup
NM_000088.4:c.805-39dup MANE Select	NP_000079.2:n.805-39dup