Canonical Allele Identifier: CA2697551450

Gene: COL3A1

Linked Data

• ClinVar Variation Id: 2683642
• ClinVar RCV Id: RCV003480462

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.188999354_188999360delinsACTGTT , CM000664.2:g.188999354_188999360delinsACTGTT	GRCh38
NC_000002.11:g.189864080_189864086delinsACTGTT , CM000664.1:g.189864080_189864086delinsACTGTT	GRCh37
NC_000002.10:g.189572325_189572331delinsACTGTT	NCBI36
NG_007404.1:g.29982_29988delinsACTGTT , LRG_3:g.29982_29988delinsACTGTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000450867.2:c.1993_1999delinsACTGTT	ENSP00000415346.2:p.Ala665ThrfsTer?
ENST00000304636.9:c.2092_2098delinsACTGTT MANE Select	ENSP00000304408.4:p.Ala698ThrfsTer?
ENST00000304636.7:c.2092_2098delinsACTGTT	ENSP00000304408.3:p.Ala698ThrfsTer?
ENST00000317840.9:c.2092_2098delinsACTGTT	ENSP00000315243.6:p.Ala698ThrfsTer?
NM_000090.3:c.2092_2098delinsACTGTT , LRG_3t1:c.2092_2098delinsACTGTT	NP_000081.1:p.Ala698ThrfsTer?
NM_000090.4:c.2092_2098delinsACTGTT MANE Select	NP_000081.2:p.Ala698ThrfsTer?