Canonical Allele Identifier: CA591117590
Gene: COL5A1 HGNC NCBI

Linked Data

dbSNP Id: rs1481870564
gnomAD v2: 9-137735220-CTCTCTT-C
gnomAD v3: 9-134843374-CTCTCTT-C
gnomAD v4: 9-134843374-CTCTCTT-C
MyVariant Identifiers: chr9:g.137735221_137735226del (hg19) chr9:g.134843375_134843380del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.134843375_134843380del , CM000671.2:g.134843375_134843380del GRCh38
NC_000009.11:g.137735221_137735226del , CM000671.1:g.137735221_137735226del GRCh37
NC_000009.10:g.136875042_136875047del NCBI36
NG_008030.1:g.206570_206575del

Transcript Alleles

HGVS Amino-acid Change
ENST00000371820.4:c.*1072_*1077del ENSP00000360885.4:n.*1072_*1077del
ENST00000371817.8:c.*1072_*1077del MANE Select ENSP00000360882.3:n.*1072_*1077del
ENST00000371817.7:c.*1072_*1077del ENSP00000360882.3:n.*1072_*1077del
ENST00000618395.4:c.*1072_*1077del ENSP00000481360.1:n.*1072_*1077del
NM_000093.4:c.*1072_*1077del NP_000084.3:n.*1072_*1077del
NM_001278074.1:c.*1072_*1077del NP_001265003.1:n.*1072_*1077del
NR_103451.2:n.71-23171_71-23166del
NM_000093.5:c.*1072_*1077del MANE Select NP_000084.3:n.*1072_*1077del
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