Canonical Allele Identifier: CA762203368

Gene: COL3A1

Linked Data

• dbSNP Id: rs1429227471
• gnomAD v3: 2-189003127-ATCTCTCCCTCTC-A
• gnomAD v4: 2-189003127-ATCTCTCCCTCTC-A
• MyVariant Identifiers: chr2:g.189867854_189867865del (hg19) ; chr2:g.189003128_189003139del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.189003140_189003151del , CM000664.2:g.189003140_189003151del	GRCh38
NC_000002.11:g.189867866_189867877del , CM000664.1:g.189867866_189867877del	GRCh37
NC_000002.10:g.189576111_189576122del	NCBI36
NG_007404.1:g.33768_33779del , LRG_3:g.33768_33779del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000450867.2:c.2454+78_2454+89del	ENSP00000415346.2:n.2454+78_2454+89del
ENST00000304636.9:c.2553+78_2553+89del MANE Select	ENSP00000304408.4:n.2553+78_2553+89del
ENST00000304636.7:c.2553+78_2553+89del	ENSP00000304408.3:n.2553+78_2553+89del
ENST00000317840.9:c.2527+104_2527+115del	ENSP00000315243.6:n.2527+104_2527+115del
NM_000090.3:c.2553+78_2553+89del , LRG_3t1:c.2553+78_2553+89del	NP_000081.1:n.2553+78_2553+89del
NM_000090.4:c.2553+78_2553+89del MANE Select	NP_000081.2:n.2553+78_2553+89del