Canonical Allele Identifier: CA2550148692

Gene: COL3A1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.188991737_188991739del , CM000664.2:g.188991737_188991739del	GRCh38
NC_000002.11:g.189856463_189856465del , CM000664.1:g.189856463_189856465del	GRCh37
NC_000002.10:g.189564708_189564710del	NCBI36
NG_007404.1:g.22365_22367del , LRG_3:g.22365_22367del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000450867.2:c.951+15_951+17del	ENSP00000415346.2:n.951+15_951+17del
ENST00000304636.9:c.951+15_951+17del MANE Select	ENSP00000304408.4:n.951+15_951+17del
ENST00000304636.7:c.951+15_951+17del	ENSP00000304408.3:n.951+15_951+17del
ENST00000317840.9:c.951+15_951+17del	ENSP00000315243.6:n.951+15_951+17del
ENST00000450867.1:c.49+15_49+17del
NM_000090.3:c.951+15_951+17del , LRG_3t1:c.951+15_951+17del	NP_000081.1:n.951+15_951+17del
NM_000090.4:c.951+15_951+17del MANE Select	NP_000081.2:n.951+15_951+17del