Canonical Allele Identifier: CA2662311230

Gene: COL3A1

Linked Data

• gnomAD v4: 2-189008569-A-AT

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.189008570dup , CM000664.2:g.189008570dup	GRCh38
NC_000002.11:g.189873296dup , CM000664.1:g.189873296dup	GRCh37
NC_000002.10:g.189581541dup	NCBI36
NG_007404.1:g.39198dup , LRG_3:g.39198dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000450867.2:c.3427-354dup	ENSP00000415346.2:n.3427-354dup
ENST00000304636.9:c.3526-354dup MANE Select	ENSP00000304408.4:n.3526-354dup
ENST00000304636.7:c.3526-354dup	ENSP00000304408.3:n.3526-354dup
ENST00000317840.9:c.2617-354dup	ENSP00000315243.6:n.2617-354dup
ENST00000487010.1:n.269dup
NM_000090.3:c.3526-354dup , LRG_3t1:c.3526-354dup	NP_000081.1:n.3526-354dup
NM_000090.4:c.3526-354dup MANE Select	NP_000081.2:n.3526-354dup