Canonical Allele Identifier: CA762204006

Gene: COL3A1

Linked Data

• dbSNP Id: rs1411909882
• gnomAD v3: 2-189003929-GA-G
• gnomAD v4: 2-189003929-GA-G
• MyVariant Identifiers: chr2:g.189868656del (hg19) ; chr2:g.189003930del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.189003935del , CM000664.2:g.189003935del	GRCh38
NC_000002.11:g.189868661del , CM000664.1:g.189868661del	GRCh37
NC_000002.10:g.189576906del	NCBI36
NG_007404.1:g.34563del , LRG_3:g.34563del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000450867.2:c.2563-47del	ENSP00000415346.2:n.2563-47del
ENST00000304636.9:c.2662-47del MANE Select	ENSP00000304408.4:n.2662-47del
ENST00000304636.7:c.2662-47del	ENSP00000304408.3:n.2662-47del
ENST00000317840.9:c.2527+899del	ENSP00000315243.6:n.2527+899del
NM_000090.3:c.2662-47del , LRG_3t1:c.2662-47del	NP_000081.1:n.2662-47del
NM_000090.4:c.2662-47del MANE Select	NP_000081.2:n.2662-47del