Canonical Allele Identifier: CA2580065261

Gene: COL3A1

Linked Data

• ClinVar Variation Id: 2006377
• ClinVar RCV Id: RCV002837721

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.189006394_189006411dup , CM000664.2:g.189006394_189006411dup	GRCh38
NC_000002.11:g.189871120_189871137dup , CM000664.1:g.189871120_189871137dup	GRCh37
NC_000002.10:g.189579365_189579382dup	NCBI36
NG_007404.1:g.37022_37039dup , LRG_3:g.37022_37039dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000450867.2:c.3044_3061dup	ENSP00000415346.2:p.Gly1020_Pro1021insHisProGlyProProGly
ENST00000304636.9:c.3143_3160dup MANE Select	ENSP00000304408.4:p.Gly1053_Pro1054insHisProGlyProProGly
ENST00000304636.7:c.3143_3160dup	ENSP00000304408.3:p.Gly1053_Pro1054insHisProGlyProProGly
ENST00000317840.9:c.2528-1660_2528-1643dup	ENSP00000315243.6:n.2528-1660_2528-1643dup
NM_000090.3:c.3143_3160dup , LRG_3t1:c.3143_3160dup	NP_000081.1:p.Gly1053_Pro1054insHisProGlyProProGly
NM_000090.4:c.3143_3160dup MANE Select	NP_000081.2:p.Gly1053_Pro1054insHisProGlyProProGly