Canonical Allele Identifier: CA1315395827

Gene: COL3A1

Linked Data

• ClinVar Variation Id: 994416
• ClinVar RCV Id: RCV001810630
• dbSNP Id: rs1688112903

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.188988648_188988651del , CM000664.2:g.188988648_188988651del	GRCh38
NC_000002.11:g.189853374_189853377del , CM000664.1:g.189853374_189853377del	GRCh37
NC_000002.10:g.189561619_189561622del	NCBI36
NG_007404.1:g.19276_19279del , LRG_3:g.19276_19279del

Transcript Alleles

HGVS	Amino-acid change
ENST00000450867.2:c.636+5_636+8del
ENST00000304636.9:c.636+5_636+8del
ENST00000304636.7:c.636+5_636+8del
ENST00000317840.9:c.636+5_636+8del
NM_000090.3:c.636+5_636+8del , LRG_3t1:c.636+5_636+8del
NM_000090.4:c.636+5_636+8del