Canonical Allele Identifier: CA2753572107

Gene: COL3A1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.188994219_188994220del , CM000664.2:g.188994219_188994220del	GRCh38
NC_000002.11:g.189858945_189858946del , CM000664.1:g.189858945_189858946del	GRCh37
NC_000002.10:g.189567190_189567191del	NCBI36
NG_007404.1:g.24847_24848del , LRG_3:g.24847_24848del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000450867.2:c.1096-15_1096-14del	ENSP00000415346.2:n.1096-15_1096-14del
ENST00000304636.9:c.1195-15_1195-14del MANE Select	ENSP00000304408.4:n.1195-15_1195-14del
ENST00000304636.7:c.1195-15_1195-14del	ENSP00000304408.3:n.1195-15_1195-14del
ENST00000317840.9:c.1195-15_1195-14del	ENSP00000315243.6:n.1195-15_1195-14del
ENST00000450867.1:c.194-15_194-14del
NM_000090.3:c.1195-15_1195-14del , LRG_3t1:c.1195-15_1195-14del	NP_000081.1:n.1195-15_1195-14del
NM_000090.4:c.1195-15_1195-14del MANE Select	NP_000081.2:n.1195-15_1195-14del