Canonical Allele Identifier: CA1883397349
Gene: COL5A1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.134843010_134843016delinsTTAGAAA , CM000671.2:g.134843010_134843016delinsTTAGAAA GRCh38
NC_000009.11:g.137734856_137734862delinsTTAGAAA , CM000671.1:g.137734856_137734862delinsTTAGAAA GRCh37
NC_000009.10:g.136874677_136874683delinsTTAGAAA NCBI36
NG_008030.1:g.206205_206211delinsTTAGAAA

Transcript Alleles

HGVS Amino-acid Change
ENST00000371820.4:c.*707_*713delinsTTAGAAA ENSP00000360885.4:n.*707_*713delinsTTAGAAA
ENST00000371817.8:c.*707_*713delinsTTAGAAA MANE Select ENSP00000360882.3:n.*707_*713delinsTTAGAAA
ENST00000371817.7:c.*707_*713delinsTTAGAAA ENSP00000360882.3:n.*707_*713delinsTTAGAAA
ENST00000618395.4:c.*707_*713delinsTTAGAAA ENSP00000481360.1:n.*707_*713delinsTTAGAAA
NM_000093.4:c.*707_*713delinsTTAGAAA NP_000084.3:n.*707_*713delinsTTAGAAA
NM_001278074.1:c.*707_*713delinsTTAGAAA NP_001265003.1:n.*707_*713delinsTTAGAAA
NR_103451.2:n.71-22807_71-22801delinsTTTCTAA
NM_000093.5:c.*707_*713delinsTTAGAAA MANE Select NP_000084.3:n.*707_*713delinsTTAGAAA
Search 100 bp 5'
Search 100 bp 3'