Canonical Allele Identifier: CA1315398502

Gene: COL3A1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.188994388_188994389delinsCA , CM000664.2:g.188994388_188994389delinsCA	GRCh38
NC_000002.11:g.189859114_189859115delinsCA , CM000664.1:g.189859114_189859115delinsCA	GRCh37
NC_000002.10:g.189567359_189567360delinsCA	NCBI36
NG_007404.1:g.25016_25017delinsCA , LRG_3:g.25016_25017delinsCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000450867.2:c.1194+56_1194+57delinsCA	ENSP00000415346.2:n.1194+56_1194+57delinsCA
ENST00000304636.9:c.1293+56_1293+57delinsCA MANE Select	ENSP00000304408.4:n.1293+56_1293+57delinsCA
ENST00000304636.7:c.1293+56_1293+57delinsCA	ENSP00000304408.3:n.1293+56_1293+57delinsCA
ENST00000317840.9:c.1293+56_1293+57delinsCA	ENSP00000315243.6:n.1293+56_1293+57delinsCA
NM_000090.3:c.1293+56_1293+57delinsCA , LRG_3t1:c.1293+56_1293+57delinsCA	NP_000081.1:n.1293+56_1293+57delinsCA
NM_000090.4:c.1293+56_1293+57delinsCA MANE Select	NP_000081.2:n.1293+56_1293+57delinsCA