Canonical Allele Identifier: CA2508638692

Gene: COL3A1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.189001255_189001257del , CM000664.2:g.189001255_189001257del	GRCh38
NC_000002.11:g.189865981_189865983del , CM000664.1:g.189865981_189865983del	GRCh37
NC_000002.10:g.189574226_189574228del	NCBI36
NG_007404.1:g.31883_31885del , LRG_3:g.31883_31885del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000450867.2:c.2185-142_2185-140del	ENSP00000415346.2:n.2185-142_2185-140del
ENST00000304636.9:c.2284-142_2284-140del MANE Select	ENSP00000304408.4:n.2284-142_2284-140del
ENST00000304636.7:c.2284-142_2284-140del	ENSP00000304408.3:n.2284-142_2284-140del
ENST00000317840.9:c.2284-142_2284-140del	ENSP00000315243.6:n.2284-142_2284-140del
NM_000090.3:c.2284-142_2284-140del , LRG_3t1:c.2284-142_2284-140del	NP_000081.1:n.2284-142_2284-140del
NM_000090.4:c.2284-142_2284-140del MANE Select	NP_000081.2:n.2284-142_2284-140del