Canonical Allele Identifier: CA2809756871

Gene: COL1A1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50185417_50185418insTTTTT , CM000679.2:g.50185417_50185418insTTTTT	GRCh38
NC_000017.10:g.48262778_48262779insTTTTT , CM000679.1:g.48262778_48262779insTTTTT	GRCh37
NC_000017.9:g.45617777_45617778insTTTTT	NCBI36
NG_007400.1:g.21222_21223insAAAAA , LRG_1:g.21222_21223insAAAAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225964.10:c.*84_*85insAAAAA MANE Select	ENSP00000225964.6:n.*84_*85insAAAAA
ENST00000225964.9:c.*84_*85insAAAAA	ENSP00000225964.5:n.*84_*85insAAAAA
NM_000088.3:c.*84_*85insAAAAA , LRG_1t1:c.*84_*85insAAAAA	NP_000079.2:n.*84_*85insAAAAA
XM_005257058.3:c.*84_*85insAAAAA	XP_005257115.2:n.*84_*85insAAAAA
XM_005257059.3:c.*84_*85insAAAAA	XP_005257116.2:n.*84_*85insAAAAA
XM_011524341.1:c.*84_*85insAAAAA	XP_011522643.1:n.*84_*85insAAAAA
XM_005257058.4:c.*84_*85insAAAAA	XP_005257115.2:n.*84_*85insAAAAA
XM_005257059.4:c.*84_*85insAAAAA	XP_005257116.2:n.*84_*85insAAAAA
NM_000088.4:c.*84_*85insAAAAA MANE Select	NP_000079.2:n.*84_*85insAAAAA