Canonical Allele Identifier: CA2549526565

Gene: COL3A1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.188988650_188988651insGAATATGTAA , CM000664.2:g.188988650_188988651insGAATATGTAA	GRCh38
NC_000002.11:g.189853376_189853377insGAATATGTAA , CM000664.1:g.189853376_189853377insGAATATGTAA	GRCh37
NC_000002.10:g.189561621_189561622insGAATATGTAA	NCBI36
NG_007404.1:g.19278_19279insGAATATGTAA , LRG_3:g.19278_19279insGAATATGTAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000450867.2:c.636+7_636+8insGAATATGTAA	ENSP00000415346.2:n.636+7_636+8insGAATATGTAA
ENST00000304636.9:c.636+7_636+8insGAATATGTAA MANE Select	ENSP00000304408.4:n.636+7_636+8insGAATATGTAA
ENST00000304636.7:c.636+7_636+8insGAATATGTAA	ENSP00000304408.3:n.636+7_636+8insGAATATGTAA
ENST00000317840.9:c.636+7_636+8insGAATATGTAA	ENSP00000315243.6:n.636+7_636+8insGAATATGTAA
NM_000090.3:c.636+7_636+8insGAATATGTAA , LRG_3t1:c.636+7_636+8insGAATATGTAA	NP_000081.1:n.636+7_636+8insGAATATGTAA
NM_000090.4:c.636+7_636+8insGAATATGTAA MANE Select	NP_000081.2:n.636+7_636+8insGAATATGTAA