Canonical Allele Identifier: CA762194618

Gene: COL3A1

Linked Data

• dbSNP Id: rs1395337379
• MyVariant Identifiers: chr2:g.189858734_189858736del (hg19) ; chr2:g.188994008_188994010del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.188994010_188994012del , CM000664.2:g.188994010_188994012del	GRCh38
NC_000002.11:g.189858736_189858738del , CM000664.1:g.189858736_189858738del	GRCh37
NC_000002.10:g.189566981_189566983del	NCBI36
NG_007404.1:g.24638_24640del , LRG_3:g.24638_24640del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000450867.2:c.1051-28_1051-26del	ENSP00000415346.2:n.1051-28_1051-26del
ENST00000304636.9:c.1150-28_1150-26del MANE Select	ENSP00000304408.4:n.1150-28_1150-26del
ENST00000304636.7:c.1150-28_1150-26del	ENSP00000304408.3:n.1150-28_1150-26del
ENST00000317840.9:c.1150-28_1150-26del	ENSP00000315243.6:n.1150-28_1150-26del
ENST00000450867.1:c.149-28_149-26del
NM_000090.3:c.1150-28_1150-26del , LRG_3t1:c.1150-28_1150-26del	NP_000081.1:n.1150-28_1150-26del
NM_000090.4:c.1150-28_1150-26del MANE Select	NP_000081.2:n.1150-28_1150-26del