Canonical Allele Identifier: CA2577185637

Gene: COL3A1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.188999421dup , CM000664.2:g.188999421dup	GRCh38
NC_000002.11:g.189864147dup , CM000664.1:g.189864147dup	GRCh37
NC_000002.10:g.189572392dup	NCBI36
NG_007404.1:g.30049dup , LRG_3:g.30049dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000450867.2:c.2022+38dup	ENSP00000415346.2:n.2022+38dup
ENST00000304636.9:c.2121+38dup MANE Select	ENSP00000304408.4:n.2121+38dup
ENST00000304636.7:c.2121+38dup	ENSP00000304408.3:n.2121+38dup
ENST00000317840.9:c.2121+38dup	ENSP00000315243.6:n.2121+38dup
NM_000090.3:c.2121+38dup , LRG_3t1:c.2121+38dup	NP_000081.1:n.2121+38dup
NM_000090.4:c.2121+38dup MANE Select	NP_000081.2:n.2121+38dup