Canonical Allele Identifier: CA762203994

Gene: COL3A1

Linked Data

• dbSNP Id: rs1326956166
• MyVariant Identifiers: chr2:g.189868599del (hg19) ; chr2:g.189003873del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.189003873del , CM000664.2:g.189003873del	GRCh38
NC_000002.11:g.189868599del , CM000664.1:g.189868599del	GRCh37
NC_000002.10:g.189576844del	NCBI36
NG_007404.1:g.34501del , LRG_3:g.34501del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000450867.2:c.2562+86del	ENSP00000415346.2:n.2562+86del
ENST00000304636.9:c.2661+86del MANE Select	ENSP00000304408.4:n.2661+86del
ENST00000304636.7:c.2661+86del	ENSP00000304408.3:n.2661+86del
ENST00000317840.9:c.2527+837del	ENSP00000315243.6:n.2527+837del
ENST00000467886.1:n.182del
NM_000090.3:c.2661+86del , LRG_3t1:c.2661+86del	NP_000081.1:n.2661+86del
NM_000090.4:c.2661+86del MANE Select	NP_000081.2:n.2661+86del