Canonical Allele Identifier: CA2532045175

Gene: COL3A1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.188991742_188991743insTG , CM000664.2:g.188991742_188991743insTG	GRCh38
NC_000002.11:g.189856468_189856469insTG , CM000664.1:g.189856468_189856469insTG	GRCh37
NC_000002.10:g.189564713_189564714insTG	NCBI36
NG_007404.1:g.22370_22371insTG , LRG_3:g.22370_22371insTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000450867.2:c.951+20_951+21insTG	ENSP00000415346.2:n.951+20_951+21insTG
ENST00000304636.9:c.951+20_951+21insTG MANE Select	ENSP00000304408.4:n.951+20_951+21insTG
ENST00000304636.7:c.951+20_951+21insTG	ENSP00000304408.3:n.951+20_951+21insTG
ENST00000317840.9:c.951+20_951+21insTG	ENSP00000315243.6:n.951+20_951+21insTG
ENST00000450867.1:c.49+20_49+21insTG
NM_000090.3:c.951+20_951+21insTG , LRG_3t1:c.951+20_951+21insTG	NP_000081.1:n.951+20_951+21insTG
NM_000090.4:c.951+20_951+21insTG MANE Select	NP_000081.2:n.951+20_951+21insTG