Canonical Allele Identifier: CA2662288457

Gene: COL3A1

Linked Data

• gnomAD v4: 2-188993266-CT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.188993270del , CM000664.2:g.188993270del	GRCh38
NC_000002.11:g.189857996del , CM000664.1:g.189857996del	GRCh37
NC_000002.10:g.189566241del	NCBI36
NG_007404.1:g.23898del , LRG_3:g.23898del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000450867.2:c.1050+330del	ENSP00000415346.2:n.1050+330del
ENST00000304636.9:c.1051-91del MANE Select	ENSP00000304408.4:n.1051-91del
ENST00000304636.7:c.1051-91del	ENSP00000304408.3:n.1051-91del
ENST00000317840.9:c.1051-91del	ENSP00000315243.6:n.1051-91del
ENST00000450867.1:c.148+330del
NM_000090.3:c.1051-91del , LRG_3t1:c.1051-91del	NP_000081.1:n.1051-91del
NM_000090.4:c.1051-91del MANE Select	NP_000081.2:n.1051-91del