Canonical Allele Identifier: CA2638704526

Gene: COL1A1

Linked Data

• gnomAD v4: 17-50185673-A-AG

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50185678dup , CM000679.2:g.50185678dup	GRCh38
NC_000017.10:g.48263039dup , CM000679.1:g.48263039dup	GRCh37
NC_000017.9:g.45618038dup	NCBI36
NG_007400.1:g.20966dup , LRG_1:g.20966dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225964.10:c.4249-26dup MANE Select	ENSP00000225964.6:n.4249-26dup
ENST00000225964.9:c.4249-26dup	ENSP00000225964.5:n.4249-26dup
NM_000088.3:c.4249-26dup , LRG_1t1:c.4249-26dup	NP_000079.2:n.4249-26dup
XM_005257058.3:c.3979-26dup	XP_005257115.2:n.3979-26dup
XM_005257059.3:c.3331-26dup	XP_005257116.2:n.3331-26dup
XM_011524341.1:c.4051-26dup	XP_011522643.1:n.4051-26dup
XM_005257058.4:c.3979-26dup	XP_005257115.2:n.3979-26dup
XM_005257059.4:c.3331-26dup	XP_005257116.2:n.3331-26dup
NM_000088.4:c.4249-26dup MANE Select	NP_000079.2:n.4249-26dup