Canonical Allele Identifier: CA2263920438

Gene: COL1A1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50198832_50198837delinsTTGGGG , CM000679.2:g.50198832_50198837delinsTTGGGG	GRCh38
NC_000017.10:g.48276193_48276198delinsTTGGGG , CM000679.1:g.48276193_48276198delinsTTGGGG	GRCh37
NC_000017.9:g.45631192_45631197delinsTTGGGG	NCBI36
NG_007400.1:g.7803_7808delinsCCCCAA , LRG_1:g.7803_7808delinsCCCCAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225964.10:c.472-333_472-328delinsCCCCAA MANE Select	ENSP00000225964.6:n.472-333_472-328delinsCCCCAA
ENST00000225964.9:c.472-333_472-328delinsCCCCAA	ENSP00000225964.5:n.472-333_472-328delinsCCCCAA
NM_000088.3:c.472-333_472-328delinsCCCCAA , LRG_1t1:c.472-333_472-328delinsCCCCAA	NP_000079.2:n.472-333_472-328delinsCCCCAA
XM_005257058.3:c.472-333_472-328delinsCCCCAA	XP_005257115.2:n.472-333_472-328delinsCCCCAA
XM_005257059.3:c.472-333_472-328delinsCCCCAA	XP_005257116.2:n.472-333_472-328delinsCCCCAA
XM_011524341.1:c.472-333_472-328delinsCCCCAA	XP_011522643.1:n.472-333_472-328delinsCCCCAA
XM_005257058.4:c.472-333_472-328delinsCCCCAA	XP_005257115.2:n.472-333_472-328delinsCCCCAA
XM_005257059.4:c.472-333_472-328delinsCCCCAA	XP_005257116.2:n.472-333_472-328delinsCCCCAA
NM_000088.4:c.472-333_472-328delinsCCCCAA MANE Select	NP_000079.2:n.472-333_472-328delinsCCCCAA