Canonical Allele Identifier: CA1040410403

Gene: COL3A1

Linked Data

• dbSNP Id: rs1688452727
• gnomAD v3: 2-189001203-CAA-C
• gnomAD v4: 2-189001203-CAA-C

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.189001205_189001206del , CM000664.2:g.189001205_189001206del	GRCh38
NC_000002.11:g.189865931_189865932del , CM000664.1:g.189865931_189865932del	GRCh37
NC_000002.10:g.189574176_189574177del	NCBI36
NG_007404.1:g.31833_31834del , LRG_3:g.31833_31834del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000450867.2:c.2185-192_2185-191del	ENSP00000415346.2:n.2185-192_2185-191del
ENST00000304636.9:c.2284-192_2284-191del MANE Select	ENSP00000304408.4:n.2284-192_2284-191del
ENST00000304636.7:c.2284-192_2284-191del	ENSP00000304408.3:n.2284-192_2284-191del
ENST00000317840.9:c.2284-192_2284-191del	ENSP00000315243.6:n.2284-192_2284-191del
NM_000090.3:c.2284-192_2284-191del , LRG_3t1:c.2284-192_2284-191del	NP_000081.1:n.2284-192_2284-191del
NM_000090.4:c.2284-192_2284-191del MANE Select	NP_000081.2:n.2284-192_2284-191del