Canonical Allele Identifier: CA2832571435

Gene: COL1A1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50190332_50190333dup , CM000679.2:g.50190332_50190333dup	GRCh38
NC_000017.10:g.48267693_48267694dup , CM000679.1:g.48267693_48267694dup	GRCh37
NC_000017.9:g.45622692_45622693dup	NCBI36
NG_007400.1:g.16311_16312dup , LRG_1:g.16311_16312dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225964.10:c.2449_2450dup MANE Select	ENSP00000225964.6:p.Gly818LeufsTer?
ENST00000225964.9:c.2449_2450dup	ENSP00000225964.5:p.Gly818LeufsTer?
ENST00000494334.1:n.376_377dup
NM_000088.3:c.2449_2450dup , LRG_1t1:c.2449_2450dup	NP_000079.2:p.Gly818LeufsTer?
XM_005257058.3:c.2449_2450dup	XP_005257115.2:p.Gly818LeufsTer?
XM_005257059.3:c.1531_1532dup	XP_005257116.2:p.Gly512LeufsTer?
XM_011524341.1:c.2251_2252dup	XP_011522643.1:p.Gly752LeufsTer?
XM_005257058.4:c.2449_2450dup	XP_005257115.2:p.Gly818LeufsTer?
XM_005257059.4:c.1531_1532dup	XP_005257116.2:p.Gly512LeufsTer?
NM_000088.4:c.2449_2450dup MANE Select	NP_000079.2:p.Gly818LeufsTer?