Canonical Allele Identifier: CA2739279218

Gene: COL3A1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.188984982_188984983del , CM000664.2:g.188984982_188984983del	GRCh38
NC_000002.11:g.189849708_189849709del , CM000664.1:g.189849708_189849709del	GRCh37
NC_000002.10:g.189557953_189557954del	NCBI36
NG_007404.1:g.15610_15611del , LRG_3:g.15610_15611del

Transcript Alleles

HGVS	Amino-acid Change
NM_000090.4:c.282+20_282+21del MANE Select	NP_000081.2:n.282+20_282+21del
ENST00000304636.9:c.282+20_282+21del MANE Select	ENSP00000304408.4:n.282+20_282+21del
NM_000090.3:c.282+20_282+21del , LRG_3t1:c.282+20_282+21del	NP_000081.1:n.282+20_282+21del
ENST00000304636.7:c.282+20_282+21del	ENSP00000304408.3:n.282+20_282+21del
ENST00000317840.9:c.282+20_282+21del	ENSP00000315243.6:n.282+20_282+21del
ENST00000450867.2:c.282+20_282+21del	ENSP00000415346.2:n.282+20_282+21del
ENST00000470167.1:n.398_399del