Canonical Allele Identifier: CA1315398561

Gene: COL3A1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.188994525_188994527delinsCTT , CM000664.2:g.188994525_188994527delinsCTT	GRCh38
NC_000002.11:g.189859251_189859253delinsCTT , CM000664.1:g.189859251_189859253delinsCTT	GRCh37
NC_000002.10:g.189567496_189567498delinsCTT	NCBI36
NG_007404.1:g.25153_25155delinsCTT , LRG_3:g.25153_25155delinsCTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000450867.2:c.1195-16_1195-14delinsCTT	ENSP00000415346.2:n.1195-16_1195-14delinsCTT
ENST00000304636.9:c.1294-16_1294-14delinsCTT MANE Select	ENSP00000304408.4:n.1294-16_1294-14delinsCTT
ENST00000304636.7:c.1294-16_1294-14delinsCTT	ENSP00000304408.3:n.1294-16_1294-14delinsCTT
ENST00000317840.9:c.1294-16_1294-14delinsCTT	ENSP00000315243.6:n.1294-16_1294-14delinsCTT
NM_000090.3:c.1294-16_1294-14delinsCTT , LRG_3t1:c.1294-16_1294-14delinsCTT	NP_000081.1:n.1294-16_1294-14delinsCTT
NM_000090.4:c.1294-16_1294-14delinsCTT MANE Select	NP_000081.2:n.1294-16_1294-14delinsCTT