Canonical Allele Identifier: CA5318688
Gene: COL5A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 639730
ClinVar RCV Id: RCV001759492 RCV002234198
dbSNP Id: rs745934765
ExAC: 9:137623421 A / ACTACTACGACCC
gnomAD v2: 9-137623421-A-ACTACTACGACCC
gnomAD v4: 9-134731575-A-ACTACTACGACCC
MyVariant Identifiers: chr9:g.137623433_137623434insCTACTACGACCC (hg19) chr9:g.137623421_137623422insCTACTACGACCC (hg19) chr9:g.134731587_134731588insCTACTACGACCC (hg38) chr9:g.134731575_134731576insCTACTACGACCC (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.134731589_134731600dup , CM000671.2:g.134731589_134731600dup GRCh38
NC_000009.11:g.137623435_137623446dup , CM000671.1:g.137623435_137623446dup GRCh37
NC_000009.10:g.136763256_136763267dup NCBI36
NG_008030.1:g.94784_94795dup

Transcript Alleles

HGVS Amino-acid change
ENST00000371820.4:c.1258_1269dup ENSP00000360885.4:p.Pro423_Thr424insTyrTy...
ENST00000371817.8:c.1258_1269dup MANE Select ENSP00000360882.3:p.Pro423_Thr424insTyrTy...
ENST00000371817.7:c.1258_1269dup ENSP00000360882.3:p.Pro423_Thr424insTyrTy...
ENST00000618395.4:c.1258_1269dup ENSP00000481360.1:p.Pro423_Thr424insTyrTy...
NM_000093.4:c.1258_1269dup NP_000084.3:p.Pro423_Thr424insTyrTyrAspPr...
NM_001278074.1:c.1258_1269dup NP_001265003.1:p.Pro423_Thr424insTyrTyrAs...
XR_929712.1:n.1660_1671dup
XR_929713.1:n.1660_1671dup
XM_017014266.2:c.1258_1269dup XP_016869755.1:p.Pro423_Thr424insTyrTyrAs...
XR_001746183.1:n.1656_1667dup
NM_000093.5:c.1258_1269dup MANE Select NP_000084.3:p.Pro423_Thr424insTyrTyrAspPr...
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