Canonical Allele Identifier: CA1315405511

Gene: COL3A1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.189008994_189009001delinsGTGTTGGA , CM000664.2:g.189008994_189009001delinsGTGTTGGA	GRCh38
NC_000002.11:g.189873720_189873727delinsGTGTTGGA , CM000664.1:g.189873720_189873727delinsGTGTTGGA	GRCh37
NC_000002.10:g.189581965_189581972delinsGTGTTGGA	NCBI36
NG_007404.1:g.39622_39629delinsGTGTTGGA , LRG_3:g.39622_39629delinsGTGTTGGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000450867.2:c.3497_3504delinsGTGTTGGA	ENSP00000415346.2:p.Gly1166=
ENST00000304636.9:c.3596_3603delinsGTGTTGGA MANE Select	ENSP00000304408.4:p.Gly1199=
ENST00000304636.7:c.3596_3603delinsGTGTTGGA	ENSP00000304408.3:p.Gly1199=
ENST00000317840.9:c.2687_2694delinsGTGTTGGA	ENSP00000315243.6:p.Gly896=
ENST00000487010.1:n.693_700delinsGTGTTGGA
NM_000090.3:c.3596_3603delinsGTGTTGGA , LRG_3t1:c.3596_3603delinsGTGTTGGA	NP_000081.1:p.Gly1199=
NM_000090.4:c.3596_3603delinsGTGTTGGA MANE Select	NP_000081.2:p.Gly1199=