Canonical Allele Identifier: CA1315430357
Gene: COL5A2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.189062913_189062920delinsAGCTCCCT , CM000664.2:g.189062913_189062920delinsAGCTCCCT GRCh38
NC_000002.11:g.189927639_189927646delinsAGCTCCCT , CM000664.1:g.189927639_189927646delinsAGCTCCCT GRCh37
NC_000002.10:g.189635884_189635891delinsAGCTCCCT NCBI36
NG_011799.1:g.121960_121967delinsAGGGAGCT
NG_011799.2:g.121960_121967delinsAGGGAGCT
NG_011799.3:g.167382_167389delinsAGGGAGCT

Transcript Alleles

HGVS Amino-acid Change
ENST00000374866.9:c.1924-2_1929delinsAGGGAGCT
ENST00000374866.7:c.1924-2_1929delinsAGGGAGCT
ENST00000470524.2:n.30-2_35delinsAGGGAGCT
ENST00000618828.1:c.763-2_768delinsAGGGAGCT
NM_000393.3:c.1924-2_1929delinsAGGGAGCT
XM_011510573.1:c.1786-2_1791delinsAGGGAGCT
NM_000393.4:c.1924-2_1929delinsAGGGAGCT
XM_011510573.3:c.1786-2_1791delinsAGGGAGCT
NM_000393.5:c.1924-2_1929delinsAGGGAGCT