Canonical Allele Identifier: CA1315402445
Gene: COL3A1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.189002818_189002819delinsCT , CM000664.2:g.189002818_189002819delinsCT GRCh38
NC_000002.11:g.189867544_189867545delinsCT , CM000664.1:g.189867544_189867545delinsCT GRCh37
NC_000002.10:g.189575789_189575790delinsCT NCBI36
NG_007404.1:g.33446_33447delinsCT , LRG_3:g.33446_33447delinsCT

Transcript Alleles

HGVS Amino-acid Change
ENST00000450867.2:c.2347-137_2347-136delinsCT ENSP00000415346.2:n.2347-137_2347-136delinsCT
ENST00000304636.9:c.2446-137_2446-136delinsCT MANE Select ENSP00000304408.4:n.2446-137_2446-136delinsCT
ENST00000304636.7:c.2446-137_2446-136delinsCT ENSP00000304408.3:n.2446-137_2446-136delinsCT
ENST00000317840.9:c.2446-137_2446-136delinsCT ENSP00000315243.6:n.2446-137_2446-136delinsCT
NM_000090.3:c.2446-137_2446-136delinsCT , LRG_3t1:c.2446-137_2446-136delinsCT NP_000081.1:n.2446-137_2446-136delinsCT
NM_000090.4:c.2446-137_2446-136delinsCT MANE Select NP_000081.2:n.2446-137_2446-136delinsCT