Canonical Allele Identifier: CA1315398193

Gene: COL3A1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.188993711_188993716delinsTAGAGG , CM000664.2:g.188993711_188993716delinsTAGAGG	GRCh38
NC_000002.11:g.189858437_189858442delinsTAGAGG , CM000664.1:g.189858437_189858442delinsTAGAGG	GRCh37
NC_000002.10:g.189566682_189566687delinsTAGAGG	NCBI36
NG_007404.1:g.24339_24344delinsTAGAGG , LRG_3:g.24339_24344delinsTAGAGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000450867.2:c.1051-327_1051-322delinsTAGAGG	ENSP00000415346.2:n.1051-327_1051-322delinsTAGAGG
ENST00000304636.9:c.1149+252_1149+257delinsTAGAGG MANE Select	ENSP00000304408.4:n.1149+252_1149+257delinsTAGAGG
ENST00000304636.7:c.1149+252_1149+257delinsTAGAGG	ENSP00000304408.3:n.1149+252_1149+257delinsTAGAGG
ENST00000317840.9:c.1149+252_1149+257delinsTAGAGG	ENSP00000315243.6:n.1149+252_1149+257delinsTAGAGG
ENST00000450867.1:c.149-327_149-322delinsTAGAGG
NM_000090.3:c.1149+252_1149+257delinsTAGAGG , LRG_3t1:c.1149+252_1149+257delinsTAGAGG	NP_000081.1:n.1149+252_1149+257delinsTAGAGG
NM_000090.4:c.1149+252_1149+257delinsTAGAGG MANE Select	NP_000081.2:n.1149+252_1149+257delinsTAGAGG