Canonical Allele Identifier: CA2753571875

Gene: COL3A1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.189003932_189003933insCACACCCAACAC , CM000664.2:g.189003932_189003933insCACACCCAACAC	GRCh38
NC_000002.11:g.189868658_189868659insCACACCCAACAC , CM000664.1:g.189868658_189868659insCACACCCAACAC	GRCh37
NC_000002.10:g.189576903_189576904insCACACCCAACAC	NCBI36
NG_007404.1:g.34560_34561insCACACCCAACAC , LRG_3:g.34560_34561insCACACCCAACAC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000450867.2:c.2563-50_2563-49insCACACCCAACAC	ENSP00000415346.2:n.2563-50_2563-49insCACACCCAACAC
ENST00000304636.9:c.2662-50_2662-49insCACACCCAACAC MANE Select	ENSP00000304408.4:n.2662-50_2662-49insCACACCCAACAC
ENST00000304636.7:c.2662-50_2662-49insCACACCCAACAC	ENSP00000304408.3:n.2662-50_2662-49insCACACCCAACAC
ENST00000317840.9:c.2527+896_2527+897insCACACCCAACAC	ENSP00000315243.6:n.2527+896_2527+897insCACACCCAACAC
NM_000090.3:c.2662-50_2662-49insCACACCCAACAC , LRG_3t1:c.2662-50_2662-49insCACACCCAACAC	NP_000081.1:n.2662-50_2662-49insCACACCCAACAC
NM_000090.4:c.2662-50_2662-49insCACACCCAACAC MANE Select	NP_000081.2:n.2662-50_2662-49insCACACCCAACAC