Canonical Allele Identifier: CA2662311166

Gene: COL3A1

Linked Data

• gnomAD v4: 2-189008424-C-CACTAGAGATCTCAGAATT

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.189008427_189008444dup , CM000664.2:g.189008427_189008444dup	GRCh38
NC_000002.11:g.189873153_189873170dup , CM000664.1:g.189873153_189873170dup	GRCh37
NC_000002.10:g.189581398_189581415dup	NCBI36
NG_007404.1:g.39055_39072dup , LRG_3:g.39055_39072dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000450867.2:c.3426+285_3426+302dup	ENSP00000415346.2:n.3426+285_3426+302dup
ENST00000304636.9:c.3525+285_3525+302dup MANE Select	ENSP00000304408.4:n.3525+285_3525+302dup
ENST00000304636.7:c.3525+285_3525+302dup	ENSP00000304408.3:n.3525+285_3525+302dup
ENST00000317840.9:c.2616+285_2616+302dup	ENSP00000315243.6:n.2616+285_2616+302dup
ENST00000487010.1:n.126_143dup
NM_000090.3:c.3525+285_3525+302dup , LRG_3t1:c.3525+285_3525+302dup	NP_000081.1:n.3525+285_3525+302dup
NM_000090.4:c.3525+285_3525+302dup MANE Select	NP_000081.2:n.3525+285_3525+302dup