Canonical Allele Identifier: CA860892674
Gene: COL5A1 HGNC NCBI

Linked Data

dbSNP Id: rs1368970835
gnomAD v4: 9-134842080-A-AT
MyVariant Identifiers: chr9:g.137733926_137733927insT (hg19) chr9:g.134842080_134842081insT (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.134842082dup , CM000671.2:g.134842082dup GRCh38
NC_000009.11:g.137733928dup , CM000671.1:g.137733928dup GRCh37
NC_000009.10:g.136873749dup NCBI36
NG_008030.1:g.205277dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000371820.4:c.5371-75dup ENSP00000360885.4:n.5371-75dup
ENST00000371817.8:c.5371-75dup MANE Select ENSP00000360882.3:n.5371-75dup
ENST00000371817.7:c.5371-75dup ENSP00000360882.3:n.5371-75dup
ENST00000618395.4:c.5371-75dup ENSP00000481360.1:n.5371-75dup
NM_000093.4:c.5371-75dup NP_000084.3:n.5371-75dup
NM_001278074.1:c.5371-75dup NP_001265003.1:n.5371-75dup
NR_103451.2:n.71-21872dup
NM_000093.5:c.5371-75dup MANE Select NP_000084.3:n.5371-75dup
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