Canonical Allele Identifier: CA1315398317
Gene: COL3A1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.188994007_188994010delinsTTAA , CM000664.2:g.188994007_188994010delinsTTAA GRCh38
NC_000002.11:g.189858733_189858736delinsTTAA , CM000664.1:g.189858733_189858736delinsTTAA GRCh37
NC_000002.10:g.189566978_189566981delinsTTAA NCBI36
NG_007404.1:g.24635_24638delinsTTAA , LRG_3:g.24635_24638delinsTTAA

Transcript Alleles

HGVS Amino-acid Change
ENST00000450867.2:c.1051-31_1051-28delinsTTAA ENSP00000415346.2:n.1051-31_1051-28delinsTTAA
ENST00000304636.9:c.1150-31_1150-28delinsTTAA MANE Select ENSP00000304408.4:n.1150-31_1150-28delinsTTAA
ENST00000304636.7:c.1150-31_1150-28delinsTTAA ENSP00000304408.3:n.1150-31_1150-28delinsTTAA
ENST00000317840.9:c.1150-31_1150-28delinsTTAA ENSP00000315243.6:n.1150-31_1150-28delinsTTAA
ENST00000450867.1:c.149-31_149-28delinsTTAA
NM_000090.3:c.1150-31_1150-28delinsTTAA , LRG_3t1:c.1150-31_1150-28delinsTTAA NP_000081.1:n.1150-31_1150-28delinsTTAA
NM_000090.4:c.1150-31_1150-28delinsTTAA MANE Select NP_000081.2:n.1150-31_1150-28delinsTTAA