Canonical Allele Identifier: CA1315397967

Gene: COL3A1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.188993233_188993234delinsCT , CM000664.2:g.188993233_188993234delinsCT	GRCh38
NC_000002.11:g.189857959_189857960delinsCT , CM000664.1:g.189857959_189857960delinsCT	GRCh37
NC_000002.10:g.189566204_189566205delinsCT	NCBI36
NG_007404.1:g.23861_23862delinsCT , LRG_3:g.23861_23862delinsCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000450867.2:c.1050+293_1050+294delinsCT	ENSP00000415346.2:n.1050+293_1050+294delinsCT
ENST00000304636.9:c.1051-128_1051-127delinsCT MANE Select	ENSP00000304408.4:n.1051-128_1051-127delinsCT
ENST00000304636.7:c.1051-128_1051-127delinsCT	ENSP00000304408.3:n.1051-128_1051-127delinsCT
ENST00000317840.9:c.1051-128_1051-127delinsCT	ENSP00000315243.6:n.1051-128_1051-127delinsCT
ENST00000450867.1:c.148+293_148+294delinsCT
NM_000090.3:c.1051-128_1051-127delinsCT , LRG_3t1:c.1051-128_1051-127delinsCT	NP_000081.1:n.1051-128_1051-127delinsCT
NM_000090.4:c.1051-128_1051-127delinsCT MANE Select	NP_000081.2:n.1051-128_1051-127delinsCT