Canonical Allele Identifier: CA913189389
Gene: COL3A1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.188988139_188988145delinsACA , CM000664.2:g.188988139_188988145delinsACA GRCh38
NC_000002.11:g.189852865_189852871delinsACA , CM000664.1:g.189852865_189852871delinsACA GRCh37
NC_000002.10:g.189561110_189561116delinsACA NCBI36
NG_007404.1:g.18767_18773delinsACA , LRG_3:g.18767_18773delinsACA

Transcript Alleles

HGVS Amino-acid Change
ENST00000450867.2:c.582+5_582+11delinsACA ENSP00000415346.2:n.582+5_582+11delinsACA
ENST00000304636.9:c.582+5_582+11delinsACA MANE Select ENSP00000304408.4:n.582+5_582+11delinsACA
ENST00000304636.7:c.582+5_582+11delinsACA ENSP00000304408.3:n.582+5_582+11delinsACA
ENST00000317840.9:c.582+5_582+11delinsACA ENSP00000315243.6:n.582+5_582+11delinsACA
NM_000090.3:c.582+5_582+11delinsACA , LRG_3t1:c.582+5_582+11delinsACA NP_000081.1:n.582+5_582+11delinsACA
NM_000090.4:c.582+5_582+11delinsACA MANE Select NP_000081.2:n.582+5_582+11delinsACA