Canonical Allele Identifier: CA2753571854

Gene: COL3A1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.189003187_189003188insAAAAAA , CM000664.2:g.189003187_189003188insAAAAAA	GRCh38
NC_000002.11:g.189867913_189867914insAAAAAA , CM000664.1:g.189867913_189867914insAAAAAA	GRCh37
NC_000002.10:g.189576158_189576159insAAAAAA	NCBI36
NG_007404.1:g.33815_33816insAAAAAA , LRG_3:g.33815_33816insAAAAAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000450867.2:c.2454+125_2454+126insAAAAAA	ENSP00000415346.2:n.2454+125_2454+126insAAAAAA
ENST00000304636.9:c.2553+125_2553+126insAAAAAA MANE Select	ENSP00000304408.4:n.2553+125_2553+126insAAAAAA
ENST00000304636.7:c.2553+125_2553+126insAAAAAA	ENSP00000304408.3:n.2553+125_2553+126insAAAAAA
ENST00000317840.9:c.2527+151_2527+152insAAAAAA	ENSP00000315243.6:n.2527+151_2527+152insAAAAAA
NM_000090.3:c.2553+125_2553+126insAAAAAA , LRG_3t1:c.2553+125_2553+126insAAAAAA	NP_000081.1:n.2553+125_2553+126insAAAAAA
NM_000090.4:c.2553+125_2553+126insAAAAAA MANE Select	NP_000081.2:n.2553+125_2553+126insAAAAAA