Canonical Allele Identifier: CA2263918398

Gene: COL1A1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50194802_50194803delinsAG , CM000679.2:g.50194802_50194803delinsAG	GRCh38
NC_000017.10:g.48272163_48272164delinsAG , CM000679.1:g.48272163_48272164delinsAG	GRCh37
NC_000017.9:g.45627162_45627163delinsAG	NCBI36
NG_007400.1:g.11837_11838delinsCT , LRG_1:g.11837_11838delinsCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225964.10:c.1379_1380delinsCT MANE Select	ENSP00000225964.6:p.Pro460=
ENST00000225964.9:c.1379_1380delinsCT	ENSP00000225964.5:p.Pro460=
ENST00000471344.1:n.323_324delinsCT
NM_000088.3:c.1379_1380delinsCT , LRG_1t1:c.1379_1380delinsCT	NP_000079.2:p.Pro460=
XM_005257058.3:c.1379_1380delinsCT	XP_005257115.2:p.Pro460=
XM_005257059.3:c.957+1511_957+1512delinsCT	XP_005257116.2:n.957+1511_957+1512delinsCT
XM_011524341.1:c.1181_1182delinsCT	XP_011522643.1:p.Pro394=
XM_005257058.4:c.1379_1380delinsCT	XP_005257115.2:p.Pro460=
XM_005257059.4:c.957+1511_957+1512delinsCT	XP_005257116.2:n.957+1511_957+1512delinsCT
NM_000088.4:c.1379_1380delinsCT MANE Select	NP_000079.2:p.Pro460=