Canonical Allele Identifier: CA201120819
Gene: COL5A1 HGNC NCBI

Linked Data

dbSNP Id: rs1021105400
MyVariant Identifiers: chr9:g.137735058_137735063del (hg19) chr9:g.134843212_134843217del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.134843215_134843220del , CM000671.2:g.134843215_134843220del GRCh38
NC_000009.11:g.137735061_137735066del , CM000671.1:g.137735061_137735066del GRCh37
NC_000009.10:g.136874882_136874887del NCBI36
NG_008030.1:g.206410_206415del

Transcript Alleles

HGVS Amino-acid Change
ENST00000371820.4:c.*912_*917del ENSP00000360885.4:n.*912_*917del
ENST00000371817.8:c.*912_*917del MANE Select ENSP00000360882.3:n.*912_*917del
ENST00000371817.7:c.*912_*917del ENSP00000360882.3:n.*912_*917del
ENST00000618395.4:c.*912_*917del ENSP00000481360.1:n.*912_*917del
NM_000093.4:c.*912_*917del NP_000084.3:n.*912_*917del
NM_001278074.1:c.*912_*917del NP_001265003.1:n.*912_*917del
NR_103451.2:n.71-23008_71-23003del
NM_000093.5:c.*912_*917del MANE Select NP_000084.3:n.*912_*917del
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