Canonical Allele Identifier: CA62592874

Gene: COL3A1

Linked Data

• dbSNP Id: rs553126550
• gnomAD v3: 2-188991596-CTT-C
• gnomAD v4: 2-188991596-CTT-C
• MyVariant Identifiers: chr2:g.189856323_189856324del (hg19) ; chr2:g.188991598_188991599del (hg38) ; chr2:g.188991597_188991598del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.188991598_188991599del , CM000664.2:g.188991598_188991599del	GRCh38
NC_000002.11:g.189856324_189856325del , CM000664.1:g.189856324_189856325del	GRCh37
NC_000002.10:g.189564569_189564570del	NCBI36
NG_007404.1:g.22226_22227del , LRG_3:g.22226_22227del

Transcript Alleles

HGVS	Amino-acid change
ENST00000450867.2:c.897+67_897+68del	ENSP00000415346.2:n.897+67_897+68del
ENST00000304636.9:c.897+67_897+68del MANE Select	ENSP00000304408.4:n.897+67_897+68del
ENST00000304636.7:c.897+67_897+68del	ENSP00000304408.3:n.897+67_897+68del
ENST00000317840.9:c.897+67_897+68del	ENSP00000315243.6:n.897+67_897+68del
NM_000090.3:c.897+67_897+68del , LRG_3t1:c.897+67_897+68del	NP_000081.1:n.897+67_897+68del
NM_000090.4:c.897+67_897+68del MANE Select	NP_000081.2:n.897+67_897+68del