Canonical Allele Identifier: CA2573154235

Gene: COL1A1

Linked Data

• ClinVar Variation Id: 1432578
• ClinVar RCV Id: RCV001943973
• dbSNP Id: rs2144590892
• gnomAD v4: 17-50199238-AGGGGGTCCGGGAGGTCCGGGGGGTCCG-A

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50199251_50199277del , CM000679.2:g.50199251_50199277del	GRCh38
NC_000017.10:g.48276612_48276638del , CM000679.1:g.48276612_48276638del	GRCh37
NC_000017.9:g.45631611_45631637del	NCBI36
NG_007400.1:g.7375_7401del , LRG_1:g.7375_7401del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225964.10:c.432_458del MANE Select	ENSP00000225964.6:p.Gly145_Pro153del
ENST00000225964.9:c.432_458del	ENSP00000225964.5:p.Gly145_Pro153del
NM_000088.3:c.432_458del , LRG_1t1:c.432_458del	NP_000079.2:p.Gly145_Pro153del
XM_005257058.3:c.432_458del	XP_005257115.2:p.Gly145_Pro153del
XM_005257059.3:c.432_458del	XP_005257116.2:p.Gly145_Pro153del
XM_011524341.1:c.432_458del	XP_011522643.1:p.Gly145_Pro153del
XM_005257058.4:c.432_458del	XP_005257115.2:p.Gly145_Pro153del
XM_005257059.4:c.432_458del	XP_005257116.2:p.Gly145_Pro153del
NM_000088.4:c.432_458del MANE Select	NP_000079.2:p.Gly145_Pro153del