Canonical Allele Identifier: CA762202875

Gene: COL3A1

Linked Data

• dbSNP Id: rs1279964036
• gnomAD v3: 2-189002747-GCA-G
• gnomAD v4: 2-189002747-GCA-G
• MyVariant Identifiers: chr2:g.189867474_189867475del (hg19) ; chr2:g.189002748_189002749del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.189002750_189002751del , CM000664.2:g.189002750_189002751del	GRCh38
NC_000002.11:g.189867476_189867477del , CM000664.1:g.189867476_189867477del	GRCh37
NC_000002.10:g.189575721_189575722del	NCBI36
NG_007404.1:g.33378_33379del , LRG_3:g.33378_33379del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000450867.2:c.2347-205_2347-204del	ENSP00000415346.2:n.2347-205_2347-204del
ENST00000304636.9:c.2446-205_2446-204del MANE Select	ENSP00000304408.4:n.2446-205_2446-204del
ENST00000304636.7:c.2446-205_2446-204del	ENSP00000304408.3:n.2446-205_2446-204del
ENST00000317840.9:c.2446-205_2446-204del	ENSP00000315243.6:n.2446-205_2446-204del
NM_000090.3:c.2446-205_2446-204del , LRG_3t1:c.2446-205_2446-204del	NP_000081.1:n.2446-205_2446-204del
NM_000090.4:c.2446-205_2446-204del MANE Select	NP_000081.2:n.2446-205_2446-204del