Canonical Allele Identifier: CA2753571986

Gene: COL3A1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.189006547_189006548insCACACCCAACAC , CM000664.2:g.189006547_189006548insCACACCCAACAC	GRCh38
NC_000002.11:g.189871273_189871274insCACACCCAACAC , CM000664.1:g.189871273_189871274insCACACCCAACAC	GRCh37
NC_000002.10:g.189579518_189579519insCACACCCAACAC	NCBI36
NG_007404.1:g.37175_37176insCACACCCAACAC , LRG_3:g.37175_37176insCACACCCAACAC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000450867.2:c.3102+95_3102+96insCACACCCAACAC	ENSP00000415346.2:n.3102+95_3102+96insCACACCCAACAC
ENST00000304636.9:c.3201+95_3201+96insCACACCCAACAC MANE Select	ENSP00000304408.4:n.3201+95_3201+96insCACACCCAACAC
ENST00000304636.7:c.3201+95_3201+96insCACACCCAACAC	ENSP00000304408.3:n.3201+95_3201+96insCACACCCAACAC
ENST00000317840.9:c.2528-1507_2528-1506insCACACCCAACAC	ENSP00000315243.6:n.2528-1507_2528-1506insCACACCCAACAC
NM_000090.3:c.3201+95_3201+96insCACACCCAACAC , LRG_3t1:c.3201+95_3201+96insCACACCCAACAC	NP_000081.1:n.3201+95_3201+96insCACACCCAACAC
NM_000090.4:c.3201+95_3201+96insCACACCCAACAC MANE Select	NP_000081.2:n.3201+95_3201+96insCACACCCAACAC