Canonical Allele Identifier: CA2580079781
Gene: DOLK HGNC NCBI

Linked Data

ClinVar Variation Id: 2091076
ClinVar RCV Id: RCV003007868
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.128946047_128946048del , CM000671.2:g.128946047_128946048del GRCh38
NC_000009.11:g.131708326_131708327del , CM000671.1:g.131708326_131708327del GRCh37
NC_000009.10:g.130748147_130748148del NCBI36
NG_017009.1:g.6687_6688del , LRG_744:g.6687_6688del
NG_033111.1:g.3355_3356del

Transcript Alleles

HGVS Amino-acid Change
ENST00000372586.4:c.1257_1258del MANE Select ENSP00000361667.3:p.Ile419MetfsTer12
ENST00000372586.3:c.1257_1258del ENSP00000361667.3:p.Ile419MetfsTer12
ENST00000482796.1:c.39-3142_39-3141del ENSP00000417556.2:n.39-3142_39-3141del
NM_014908.3:c.1257_1258del , LRG_744t1:c.1257_1258del NP_055723.1:p.Ile419MetfsTer12
NM_014908.4:c.1257_1258del MANE Select NP_055723.1:p.Ile419MetfsTer12
Search 100 bp 5'
Search 100 bp 3'