Canonical Allele Identifier: CA62589743

Gene: COL3A1

Linked Data

• dbSNP Id: rs986701856
• gnomAD v2: 2-189854296-TAAC-T
• gnomAD v3: 2-188989570-TAAC-T
• gnomAD v4: 2-188989570-TAAC-T
• MyVariant Identifiers: chr2:g.189854297_189854299del (hg19) ; chr2:g.188989571_188989573del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.188989575_188989577del , CM000664.2:g.188989575_188989577del	GRCh38
NC_000002.11:g.189854301_189854303del , CM000664.1:g.189854301_189854303del	GRCh37
NC_000002.10:g.189562546_189562548del	NCBI36
NG_007404.1:g.20203_20205del , LRG_3:g.20203_20205del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000450867.2:c.690+126_690+128del	ENSP00000415346.2:n.690+126_690+128del
ENST00000304636.9:c.690+126_690+128del MANE Select	ENSP00000304408.4:n.690+126_690+128del
ENST00000304636.7:c.690+126_690+128del	ENSP00000304408.3:n.690+126_690+128del
ENST00000317840.9:c.690+126_690+128del	ENSP00000315243.6:n.690+126_690+128del
NM_000090.3:c.690+126_690+128del , LRG_3t1:c.690+126_690+128del	NP_000081.1:n.690+126_690+128del
NM_000090.4:c.690+126_690+128del MANE Select	NP_000081.2:n.690+126_690+128del