Canonical Allele Identifier: CA1315402990
Gene: COL3A1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.189003921_189003925delinsAAAAG , CM000664.2:g.189003921_189003925delinsAAAAG GRCh38
NC_000002.11:g.189868647_189868651delinsAAAAG , CM000664.1:g.189868647_189868651delinsAAAAG GRCh37
NC_000002.10:g.189576892_189576896delinsAAAAG NCBI36
NG_007404.1:g.34549_34553delinsAAAAG , LRG_3:g.34549_34553delinsAAAAG

Transcript Alleles

HGVS Amino-acid Change
ENST00000450867.2:c.2563-61_2563-57delinsAAAAG ENSP00000415346.2:n.2563-61_2563-57delinsAAAAG
ENST00000304636.9:c.2662-61_2662-57delinsAAAAG MANE Select ENSP00000304408.4:n.2662-61_2662-57delinsAAAAG
ENST00000304636.7:c.2662-61_2662-57delinsAAAAG ENSP00000304408.3:n.2662-61_2662-57delinsAAAAG
ENST00000317840.9:c.2527+885_2527+889delinsAAAAG ENSP00000315243.6:n.2527+885_2527+889delinsAAAAG
NM_000090.3:c.2662-61_2662-57delinsAAAAG , LRG_3t1:c.2662-61_2662-57delinsAAAAG NP_000081.1:n.2662-61_2662-57delinsAAAAG
NM_000090.4:c.2662-61_2662-57delinsAAAAG MANE Select NP_000081.2:n.2662-61_2662-57delinsAAAAG