Canonical Allele Identifier: CA2662311158

Gene: COL3A1

Linked Data

• gnomAD v4: 2-189008409-TC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.189008411del , CM000664.2:g.189008411del	GRCh38
NC_000002.11:g.189873137del , CM000664.1:g.189873137del	GRCh37
NC_000002.10:g.189581382del	NCBI36
NG_007404.1:g.39039del , LRG_3:g.39039del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000450867.2:c.3426+269del	ENSP00000415346.2:n.3426+269del
ENST00000304636.9:c.3525+269del MANE Select	ENSP00000304408.4:n.3525+269del
ENST00000304636.7:c.3525+269del	ENSP00000304408.3:n.3525+269del
ENST00000317840.9:c.2616+269del	ENSP00000315243.6:n.2616+269del
ENST00000487010.1:n.110del
NM_000090.3:c.3525+269del , LRG_3t1:c.3525+269del	NP_000081.1:n.3525+269del
NM_000090.4:c.3525+269del MANE Select	NP_000081.2:n.3525+269del