Canonical Allele Identifier: CA075660

Gene: COL3A1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.188985177_188985180del , CM000664.2:g.188985177_188985180del	GRCh38
NC_000002.11:g.189849903_189849906del , CM000664.1:g.189849903_189849906del	GRCh37
NC_000002.10:g.189558148_189558151del	NCBI36
NG_007404.1:g.15805_15808del , LRG_3:g.15805_15808del

Transcript Alleles

HGVS	Amino-acid Change
NM_000090.4:c.283-20_283-17del MANE Select	NP_000081.2:n.283-20_283-17del
ENST00000304636.9:c.283-20_283-17del MANE Select	ENSP00000304408.4:n.283-20_283-17del
NM_000090.3:c.283-20_283-17del , LRG_3t1:c.283-20_283-17del	NP_000081.1:n.283-20_283-17del
ENST00000304636.7:c.283-20_283-17del	ENSP00000304408.3:n.283-20_283-17del
ENST00000317840.9:c.283-20_283-17del	ENSP00000315243.6:n.283-20_283-17del
ENST00000450867.2:c.283-20_283-17del	ENSP00000415346.2:n.283-20_283-17del
ENST00000470167.1:n.593_596del