Canonical Allele Identifier: CA762194593

Gene: COL3A1

Linked Data

• dbSNP Id: rs1245252030
• gnomAD v3: 2-188993963-TCACA-T
• gnomAD v4: 2-188993963-TCACA-T
• MyVariant Identifiers: chr2:g.189858690_189858693del (hg19) ; chr2:g.188993964_188993967del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.188993966_188993969del , CM000664.2:g.188993966_188993969del	GRCh38
NC_000002.11:g.189858692_189858695del , CM000664.1:g.189858692_189858695del	GRCh37
NC_000002.10:g.189566937_189566940del	NCBI36
NG_007404.1:g.24594_24597del , LRG_3:g.24594_24597del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000450867.2:c.1051-72_1051-69del	ENSP00000415346.2:n.1051-72_1051-69del
ENST00000304636.9:c.1150-72_1150-69del MANE Select	ENSP00000304408.4:n.1150-72_1150-69del
ENST00000304636.7:c.1150-72_1150-69del	ENSP00000304408.3:n.1150-72_1150-69del
ENST00000317840.9:c.1150-72_1150-69del	ENSP00000315243.6:n.1150-72_1150-69del
ENST00000450867.1:c.149-72_149-69del
NM_000090.3:c.1150-72_1150-69del , LRG_3t1:c.1150-72_1150-69del	NP_000081.1:n.1150-72_1150-69del
NM_000090.4:c.1150-72_1150-69del MANE Select	NP_000081.2:n.1150-72_1150-69del