Canonical Allele Identifier: CA984451341

Gene: COL1A1

Linked Data

• gnomAD v3: 17-50194726-CGCCAGGGGGTCCGGGCAGGCCAGTGGGTCCGGGTTCACCTCGAGCTCCTCGCTTTCCTTCCTCTCCAGCAGG-C
• gnomAD v4: 17-50194726-CGCCAGGGGGTCCGGGCAGGCCAGTGGGTCCGGGTTCACCTCGAGCTCCTCGCTTTCCTTCCTCTCCAGCAGG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50194739_50194810del , CM000679.2:g.50194739_50194810del	GRCh38
NC_000017.10:g.48272100_48272171del , CM000679.1:g.48272100_48272171del	GRCh37
NC_000017.9:g.45627099_45627170del	NCBI36
NG_007400.1:g.11842_11913del , LRG_1:g.11842_11913del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225964.10:c.1384_1455del MANE Select	ENSP00000225964.6:p.Pro462_Gly485del
ENST00000225964.9:c.1384_1455del	ENSP00000225964.5:p.Pro462_Gly485del
ENST00000471344.1:n.328_399del
NM_000088.3:c.1384_1455del , LRG_1t1:c.1384_1455del	NP_000079.2:p.Pro462_Gly485del
XM_005257058.3:c.1384_1455del	XP_005257115.2:p.Pro462_Gly485del
XM_005257059.3:c.957+1516_957+1587del	XP_005257116.2:n.957+1516_957+1587del
XM_011524341.1:c.1186_1257del	XP_011522643.1:p.Pro396_Gly419del
XM_005257058.4:c.1384_1455del	XP_005257115.2:p.Pro462_Gly485del
XM_005257059.4:c.957+1516_957+1587del	XP_005257116.2:n.957+1516_957+1587del
NM_000088.4:c.1384_1455del MANE Select	NP_000079.2:p.Pro462_Gly485del