Canonical Allele Identifier: CA1315402692

Gene: COL3A1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.189003276_189003282delinsGTATGAA , CM000664.2:g.189003276_189003282delinsGTATGAA	GRCh38
NC_000002.11:g.189868002_189868008delinsGTATGAA , CM000664.1:g.189868002_189868008delinsGTATGAA	GRCh37
NC_000002.10:g.189576247_189576253delinsGTATGAA	NCBI36
NG_007404.1:g.33904_33910delinsGTATGAA , LRG_3:g.33904_33910delinsGTATGAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000450867.2:c.2455-135_2455-129delinsGTATGAA	ENSP00000415346.2:n.2455-135_2455-129delinsGTATGAA
ENST00000304636.9:c.2554-135_2554-129delinsGTATGAA MANE Select	ENSP00000304408.4:n.2554-135_2554-129delinsGTATGAA
ENST00000304636.7:c.2554-135_2554-129delinsGTATGAA	ENSP00000304408.3:n.2554-135_2554-129delinsGTATGAA
ENST00000317840.9:c.2527+240_2527+246delinsGTATGAA	ENSP00000315243.6:n.2527+240_2527+246delinsGTATGAA
NM_000090.3:c.2554-135_2554-129delinsGTATGAA , LRG_3t1:c.2554-135_2554-129delinsGTATGAA	NP_000081.1:n.2554-135_2554-129delinsGTATGAA
NM_000090.4:c.2554-135_2554-129delinsGTATGAA MANE Select	NP_000081.2:n.2554-135_2554-129delinsGTATGAA