Canonical Allele Identifier: CA2739292301

Gene: COL3A1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.188997591_188997763del , CM000664.2:g.188997591_188997763del	GRCh38
NC_000002.11:g.189862317_189862489del , CM000664.1:g.189862317_189862489del	GRCh37
NC_000002.10:g.189570562_189570734del	NCBI36
NG_007404.1:g.28219_28391del , LRG_3:g.28219_28391del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000450867.2:c.1771-109_1824+10del
ENST00000304636.9:c.1870-109_1923+10del
ENST00000304636.7:c.1870-109_1923+10del
ENST00000317840.9:c.1870-109_1923+10del
NM_000090.3:c.1870-109_1923+10del , LRG_3t1:c.1870-109_1923+10del
NM_000090.4:c.1870-109_1923+10del