Canonical Allele Identifier: CA2809756991

Gene: COL1A1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50194457_50194458dup , CM000679.2:g.50194457_50194458dup	GRCh38
NC_000017.10:g.48271818_48271819dup , CM000679.1:g.48271818_48271819dup	GRCh37
NC_000017.9:g.45626817_45626818dup	NCBI36
NG_007400.1:g.12185_12186dup , LRG_1:g.12185_12186dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225964.10:c.1516-8_1516-7dup MANE Select	ENSP00000225964.6:n.1516-8_1516-7dup
ENST00000225964.9:c.1516-8_1516-7dup	ENSP00000225964.5:n.1516-8_1516-7dup
ENST00000471344.1:n.460-8_460-7dup
NM_000088.3:c.1516-8_1516-7dup , LRG_1t1:c.1516-8_1516-7dup	NP_000079.2:n.1516-8_1516-7dup
XM_005257058.3:c.1516-8_1516-7dup	XP_005257115.2:n.1516-8_1516-7dup
XM_005257059.3:c.958-1762_958-1761dup	XP_005257116.2:n.958-1762_958-1761dup
XM_011524341.1:c.1318-8_1318-7dup	XP_011522643.1:n.1318-8_1318-7dup
XM_005257058.4:c.1516-8_1516-7dup	XP_005257115.2:n.1516-8_1516-7dup
XM_005257059.4:c.958-1762_958-1761dup	XP_005257116.2:n.958-1762_958-1761dup
NM_000088.4:c.1516-8_1516-7dup MANE Select	NP_000079.2:n.1516-8_1516-7dup