Canonical Allele Identifier: CA2559470187

Gene: COL3A1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.188991732del , CM000664.2:g.188991732del	GRCh38
NC_000002.11:g.189856458del , CM000664.1:g.189856458del	GRCh37
NC_000002.10:g.189564703del	NCBI36
NG_007404.1:g.22360del , LRG_3:g.22360del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000450867.2:c.951+10del	ENSP00000415346.2:n.951+10del
ENST00000304636.9:c.951+10del MANE Select	ENSP00000304408.4:n.951+10del
ENST00000304636.7:c.951+10del	ENSP00000304408.3:n.951+10del
ENST00000317840.9:c.951+10del	ENSP00000315243.6:n.951+10del
ENST00000450867.1:c.49+10del
NM_000090.3:c.951+10del , LRG_3t1:c.951+10del	NP_000081.1:n.951+10del
NM_000090.4:c.951+10del MANE Select	NP_000081.2:n.951+10del