Canonical Allele Identifier: CA2662311347

Gene: COL3A1

Linked Data

• gnomAD v4: 2-189008786-CAAAT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.189008791_189008794del , CM000664.2:g.189008791_189008794del	GRCh38
NC_000002.11:g.189873517_189873520del , CM000664.1:g.189873517_189873520del	GRCh37
NC_000002.10:g.189581762_189581765del	NCBI36
NG_007404.1:g.39419_39422del , LRG_3:g.39419_39422del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000450867.2:c.3427-133_3427-130del	ENSP00000415346.2:n.3427-133_3427-130del
ENST00000304636.9:c.3526-133_3526-130del MANE Select	ENSP00000304408.4:n.3526-133_3526-130del
ENST00000304636.7:c.3526-133_3526-130del	ENSP00000304408.3:n.3526-133_3526-130del
ENST00000317840.9:c.2617-133_2617-130del	ENSP00000315243.6:n.2617-133_2617-130del
ENST00000487010.1:n.490_493del
NM_000090.3:c.3526-133_3526-130del , LRG_3t1:c.3526-133_3526-130del	NP_000081.1:n.3526-133_3526-130del
NM_000090.4:c.3526-133_3526-130del MANE Select	NP_000081.2:n.3526-133_3526-130del