Canonical Allele Identifier: CA1315400916

Gene: COL3A1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.188999375_188999385delinsGGAGGAAAGGT , CM000664.2:g.188999375_188999385delinsGGAGGAAAGGT	GRCh38
NC_000002.11:g.189864101_189864111delinsGGAGGAAAGGT , CM000664.1:g.189864101_189864111delinsGGAGGAAAGGT	GRCh37
NC_000002.10:g.189572346_189572356delinsGGAGGAAAGGT	NCBI36
NG_007404.1:g.30003_30013delinsGGAGGAAAGGT , LRG_3:g.30003_30013delinsGGAGGAAAGGT

Transcript Alleles

HGVS	Amino-acid change
ENST00000450867.2:c.2014_2022+2delinsGGAGGAAAGGT
ENST00000304636.9:c.2113_2121+2delinsGGAGGAAAGGT
ENST00000304636.7:c.2113_2121+2delinsGGAGGAAAGGT
ENST00000317840.9:c.2113_2121+2delinsGGAGGAAAGGT
NM_000090.3:c.2113_2121+2delinsGGAGGAAAGGT , LRG_3t1:c.2113_2121+2delinsGGAGGAAAGGT
NM_000090.4:c.2113_2121+2delinsGGAGGAAAGGT