Canonical Allele Identifier: CA591117594
Gene: COL5A1 HGNC NCBI

Linked Data

dbSNP Id: rs1564192416
gnomAD v2: 9-137735227-GTGGTGCTAT-G
gnomAD v3: 9-134843381-GTGGTGCTAT-G
gnomAD v4: 9-134843381-GTGGTGCTAT-G
MyVariant Identifiers: chr9:g.137735228_137735236del (hg19) chr9:g.134843382_134843390del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.134843382_134843390del , CM000671.2:g.134843382_134843390del GRCh38
NC_000009.11:g.137735228_137735236del , CM000671.1:g.137735228_137735236del GRCh37
NC_000009.10:g.136875049_136875057del NCBI36
NG_008030.1:g.206577_206585del

Transcript Alleles

HGVS Amino-acid Change
ENST00000371820.4:c.*1079_*1087del ENSP00000360885.4:n.*1079_*1087del
ENST00000371817.8:c.*1079_*1087del MANE Select ENSP00000360882.3:n.*1079_*1087del
ENST00000371817.7:c.*1079_*1087del ENSP00000360882.3:n.*1079_*1087del
ENST00000618395.4:c.*1079_*1087del ENSP00000481360.1:n.*1079_*1087del
NM_000093.4:c.*1079_*1087del NP_000084.3:n.*1079_*1087del
NM_001278074.1:c.*1079_*1087del NP_001265003.1:n.*1079_*1087del
NR_103451.2:n.71-23181_71-23173del
NM_000093.5:c.*1079_*1087del MANE Select NP_000084.3:n.*1079_*1087del
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