Canonical Allele Identifier: CA2499215535

Gene: COL3A1

Linked Data

• ClinVar Variation Id: 1064337
• ClinVar RCV Id: RCV001374292
• dbSNP Id: rs1688402573
• gnomAD v4: 2-188999385-TA-T

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.188999387del , CM000664.2:g.188999387del	GRCh38
NC_000002.11:g.189864113del , CM000664.1:g.189864113del	GRCh37
NC_000002.10:g.189572358del	NCBI36
NG_007404.1:g.30015del , LRG_3:g.30015del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000450867.2:c.2022+4del	ENSP00000415346.2:n.2022+4del
ENST00000304636.9:c.2121+4del MANE Select	ENSP00000304408.4:n.2121+4del
ENST00000304636.7:c.2121+4del	ENSP00000304408.3:n.2121+4del
ENST00000317840.9:c.2121+4del	ENSP00000315243.6:n.2121+4del
NM_000090.3:c.2121+4del , LRG_3t1:c.2121+4del	NP_000081.1:n.2121+4del
NM_000090.4:c.2121+4del MANE Select	NP_000081.2:n.2121+4del