Canonical Allele Identifier: CA658796123

Gene: COL3A1

Linked Data

• ClinVar Variation Id: 529321
• ClinVar RCV Id: RCV000634718
• dbSNP Id: rs1553509208
• MyVariant Identifiers: chr2:g.189868987del (hg19) ; chr2:g.189004261del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.189004261del , CM000664.2:g.189004261del	GRCh38
NC_000002.11:g.189868987del , CM000664.1:g.189868987del	GRCh37
NC_000002.10:g.189577232del	NCBI36
NG_007404.1:g.34889del , LRG_3:g.34889del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000450867.2:c.2729del	ENSP00000415346.2:p.Ala910ValfsTer?
ENST00000304636.9:c.2828del MANE Select	ENSP00000304408.4:p.Ala943ValfsTer?
ENST00000304636.7:c.2828del	ENSP00000304408.3:p.Ala943ValfsTer?
ENST00000317840.9:c.2527+1225del	ENSP00000315243.6:n.2527+1225del
NM_000090.3:c.2828del , LRG_3t1:c.2828del	NP_000081.1:p.Ala943ValfsTer?
NM_000090.4:c.2828del MANE Select	NP_000081.2:p.Ala943ValfsTer?