Canonical Allele Identifier: CA1315398348

Gene: COL3A1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.188994060_188994061delinsGT , CM000664.2:g.188994060_188994061delinsGT	GRCh38
NC_000002.11:g.189858786_189858787delinsGT , CM000664.1:g.189858786_189858787delinsGT	GRCh37
NC_000002.10:g.189567031_189567032delinsGT	NCBI36
NG_007404.1:g.24688_24689delinsGT , LRG_3:g.24688_24689delinsGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000450867.2:c.1073_1074delinsGT	ENSP00000415346.2:p.Ser358=
ENST00000304636.9:c.1172_1173delinsGT MANE Select	ENSP00000304408.4:p.Ser391=
ENST00000304636.7:c.1172_1173delinsGT	ENSP00000304408.3:p.Ser391=
ENST00000317840.9:c.1172_1173delinsGT	ENSP00000315243.6:p.Ser391=
ENST00000450867.1:c.171_172delinsGT
NM_000090.3:c.1172_1173delinsGT , LRG_3t1:c.1172_1173delinsGT	NP_000081.1:p.Ser391=
NM_000090.4:c.1172_1173delinsGT MANE Select	NP_000081.2:p.Ser391=