Canonical Allele Identifier: CA16618792
Gene: COL5A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 421201
ClinVar RCV Id: RCV000483786
dbSNP Id: rs1064794972

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.134835207_134835212delinsC , CM000671.2:g.134835207_134835212delinsC GRCh38
NC_000009.11:g.137727053_137727058delinsC , CM000671.1:g.137727053_137727058delinsC GRCh37
NC_000009.10:g.136866874_136866879delinsC NCBI36
NG_008030.1:g.198402_198407delinsC

Transcript Alleles

HGVS Amino-acid change
ENST00000371820.4:c.5370+3_5370+8delinsC ENSP00000360885.4:n.5370+3_5370+8delinsC
ENST00000371817.8:c.5370+3_5370+8delinsC MANE Select ENSP00000360882.3:n.5370+3_5370+8delinsC
ENST00000371817.7:c.5370+3_5370+8delinsC ENSP00000360882.3:n.5370+3_5370+8delinsC
ENST00000618395.4:c.5370+3_5370+8delinsC ENSP00000481360.1:n.5370+3_5370+8delinsC
NM_000093.4:c.5370+3_5370+8delinsC NP_000084.3:n.5370+3_5370+8delinsC
NM_001278074.1:c.5370+3_5370+8delinsC NP_001265003.1:n.5370+3_5370+8delinsC
NR_103451.2:n.71-15003_71-14998delinsG
NM_000093.5:c.5370+3_5370+8delinsC MANE Select NP_000084.3:n.5370+3_5370+8delinsC