Canonical Allele Identifier: CA1315398337
Gene: COL3A1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.188994036_188994054delinsAGGGCCCTCCTGGGATTAA , CM000664.2:g.188994036_188994054delinsAGGGCCCTCCTGGGATTAA GRCh38
NC_000002.11:g.189858762_189858780delinsAGGGCCCTCCTGGGATTAA , CM000664.1:g.189858762_189858780delinsAGGGCCCTCCTGGGATTAA GRCh37
NC_000002.10:g.189567007_189567025delinsAGGGCCCTCCTGGGATTAA NCBI36
NG_007404.1:g.24664_24682delinsAGGGCCCTCCTGGGATTAA , LRG_3:g.24664_24682delinsAGGGCCCTCCTGGGATTAA

Transcript Alleles

HGVS Amino-acid Change
ENST00000450867.2:c.1051-2_1067delinsAGGGCCCTCCTGGGATTAA
ENST00000304636.9:c.1150-2_1166delinsAGGGCCCTCCTGGGATTAA
ENST00000304636.7:c.1150-2_1166delinsAGGGCCCTCCTGGGATTAA
ENST00000317840.9:c.1150-2_1166delinsAGGGCCCTCCTGGGATTAA
ENST00000450867.1:c.149-2_165delinsAGGGCCCTCCTGGGATTAA
NM_000090.3:c.1150-2_1166delinsAGGGCCCTCCTGGGATTAA , LRG_3t1:c.1150-2_1166delinsAGGGCCCTCCTGGGATTAA
NM_000090.4:c.1150-2_1166delinsAGGGCCCTCCTGGGATTAA