Canonical Allele Identifier: CA2753571974

Gene: COL3A1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.189006261_189006345del , CM000664.2:g.189006261_189006345del	GRCh38
NC_000002.11:g.189870987_189871071del , CM000664.1:g.189870987_189871071del	GRCh37
NC_000002.10:g.189579232_189579316del	NCBI36
NG_007404.1:g.36889_36973del , LRG_3:g.36889_36973del

Transcript Alleles

HGVS	Amino-acid change
ENST00000450867.2:c.2994+2_2995del
ENST00000304636.9:c.3093+2_3094del
ENST00000304636.7:c.3093+2_3094del
ENST00000317840.9:c.2528-1793_2528-1709del	ENSP00000315243.6:n.2528-1793_2528-1709de...
NM_000090.3:c.3093+2_3094del , LRG_3t1:c.3093+2_3094del
NM_000090.4:c.3093+2_3094del