Canonical Allele Identifier: CA913189391

Gene: COL3A1

Linked Data

• ClinVar Variation Id: 101339
• ClinVar RCV Id: RCV000087577
• dbSNP Id: rs1559055162

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.188991726_188991727del , CM000664.2:g.188991726_188991727del	GRCh38
NC_000002.11:g.189856452_189856453del , CM000664.1:g.189856452_189856453del	GRCh37
NC_000002.10:g.189564697_189564698del	NCBI36
NG_007404.1:g.22354_22355del , LRG_3:g.22354_22355del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000450867.2:c.951+4_951+5del	ENSP00000415346.2:n.951+4_951+5del
ENST00000304636.9:c.951+4_951+5del MANE Select	ENSP00000304408.4:n.951+4_951+5del
ENST00000304636.7:c.951+4_951+5del	ENSP00000304408.3:n.951+4_951+5del
ENST00000317840.9:c.951+4_951+5del	ENSP00000315243.6:n.951+4_951+5del
ENST00000450867.1:c.49+4_49+5del
NM_000090.3:c.951+4_951+5del , LRG_3t1:c.951+4_951+5del	NP_000081.1:n.951+4_951+5del
NM_000090.4:c.951+4_951+5del MANE Select	NP_000081.2:n.951+4_951+5del