Canonical Allele Identifier: CA1315397999

Gene: COL3A1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.188993308_188993312delinsCTAAG , CM000664.2:g.188993308_188993312delinsCTAAG	GRCh38
NC_000002.11:g.189858034_189858038delinsCTAAG , CM000664.1:g.189858034_189858038delinsCTAAG	GRCh37
NC_000002.10:g.189566279_189566283delinsCTAAG	NCBI36
NG_007404.1:g.23936_23940delinsCTAAG , LRG_3:g.23936_23940delinsCTAAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000450867.2:c.1050+368_1050+372delinsCTAAG	ENSP00000415346.2:n.1050+368_1050+372delinsCTAAG
ENST00000304636.9:c.1051-53_1051-49delinsCTAAG MANE Select	ENSP00000304408.4:n.1051-53_1051-49delinsCTAAG
ENST00000304636.7:c.1051-53_1051-49delinsCTAAG	ENSP00000304408.3:n.1051-53_1051-49delinsCTAAG
ENST00000317840.9:c.1051-53_1051-49delinsCTAAG	ENSP00000315243.6:n.1051-53_1051-49delinsCTAAG
ENST00000450867.1:c.148+368_148+372delinsCTAAG
NM_000090.3:c.1051-53_1051-49delinsCTAAG , LRG_3t1:c.1051-53_1051-49delinsCTAAG	NP_000081.1:n.1051-53_1051-49delinsCTAAG
NM_000090.4:c.1051-53_1051-49delinsCTAAG MANE Select	NP_000081.2:n.1051-53_1051-49delinsCTAAG