Canonical Allele Identifier: CA860893807
Gene: COL5A1 HGNC NCBI

Linked Data

dbSNP Id: rs1324627676
MyVariant Identifiers: chr9:g.137734975_137734981del (hg19) chr9:g.134843129_134843135del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.134843129_134843135del , CM000671.2:g.134843129_134843135del GRCh38
NC_000009.11:g.137734975_137734981del , CM000671.1:g.137734975_137734981del GRCh37
NC_000009.10:g.136874796_136874802del NCBI36
NG_008030.1:g.206324_206330del

Transcript Alleles

HGVS Amino-acid change
ENST00000371820.4:c.*826_*832del ENSP00000360885.4:n.*826_*832del
ENST00000371817.8:c.*826_*832del MANE Select ENSP00000360882.3:n.*826_*832del
ENST00000371817.7:c.*826_*832del ENSP00000360882.3:n.*826_*832del
ENST00000618395.4:c.*826_*832del ENSP00000481360.1:n.*826_*832del
NM_000093.4:c.*826_*832del NP_000084.3:n.*826_*832del
NM_001278074.1:c.*826_*832del NP_001265003.1:n.*826_*832del
NR_103451.2:n.71-22926_71-22920del
NM_000093.5:c.*826_*832del MANE Select NP_000084.3:n.*826_*832del
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