Canonical Allele Identifier: CA1315402995
Gene: COL3A1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.189003929_189003930delinsGA , CM000664.2:g.189003929_189003930delinsGA GRCh38
NC_000002.11:g.189868655_189868656delinsGA , CM000664.1:g.189868655_189868656delinsGA GRCh37
NC_000002.10:g.189576900_189576901delinsGA NCBI36
NG_007404.1:g.34557_34558delinsGA , LRG_3:g.34557_34558delinsGA

Transcript Alleles

HGVS Amino-acid Change
ENST00000450867.2:c.2563-53_2563-52delinsGA ENSP00000415346.2:n.2563-53_2563-52delinsGA
ENST00000304636.9:c.2662-53_2662-52delinsGA MANE Select ENSP00000304408.4:n.2662-53_2662-52delinsGA
ENST00000304636.7:c.2662-53_2662-52delinsGA ENSP00000304408.3:n.2662-53_2662-52delinsGA
ENST00000317840.9:c.2527+893_2527+894delinsGA ENSP00000315243.6:n.2527+893_2527+894delinsGA
NM_000090.3:c.2662-53_2662-52delinsGA , LRG_3t1:c.2662-53_2662-52delinsGA NP_000081.1:n.2662-53_2662-52delinsGA
NM_000090.4:c.2662-53_2662-52delinsGA MANE Select NP_000081.2:n.2662-53_2662-52delinsGA