Canonical Allele Identifier: CA2695226469

Gene: COL1A1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50188528dup , CM000679.2:g.50188528dup	GRCh38
NC_000017.10:g.48265889dup , CM000679.1:g.48265889dup	GRCh37
NC_000017.9:g.45620888dup	NCBI36
NG_007400.1:g.18112dup , LRG_1:g.18112dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225964.10:c.3207+2dup MANE Select	ENSP00000225964.6:n.3207+2dup
ENST00000225964.9:c.3207+2dup	ENSP00000225964.5:n.3207+2dup
ENST00000486572.1:n.27dup
ENST00000511732.1:n.153dup
NM_000088.3:c.3207+2dup , LRG_1t1:c.3207+2dup	NP_000079.2:n.3207+2dup
XM_005257058.3:c.2937+2dup	XP_005257115.2:n.2937+2dup
XM_005257059.3:c.2289+2dup	XP_005257116.2:n.2289+2dup
XM_011524341.1:c.3009+2dup	XP_011522643.1:n.3009+2dup
XM_005257058.4:c.2937+2dup	XP_005257115.2:n.2937+2dup
XM_005257059.4:c.2289+2dup	XP_005257116.2:n.2289+2dup
NM_000088.4:c.3207+2dup MANE Select	NP_000079.2:n.3207+2dup