Canonical Allele Identifier: CA16619090
Gene: DYNC2H1 HGNC NCBI

Linked Data

ClinVar Variation Id: 423101
ClinVar RCV Id: RCV000478867
dbSNP Id: rs1064796228
MyVariant Identifiers: chr11:g.103049803_103049806del (hg19) chr11:g.103179074_103179077del (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.103179074_103179077del , CM000673.2:g.103179074_103179077del GRCh38
NC_000011.9:g.103049803_103049806del , CM000673.1:g.103049803_103049806del GRCh37
NC_000011.8:g.102555013_102555016del NCBI36
NG_016423.1:g.74644_74647del
NG_016423.2:g.74644_74647del

Transcript Alleles

HGVS Amino-acid change
ENST00000650373.2:c.6188_6191del MANE Plus Clinical ENSP00000497174.1:p.Ile2063AsnfsTer3
ENST00000375735.7:c.6188_6191del MANE Select ENSP00000364887.2:p.Ile2063AsnfsTer3
ENST00000649323.1:c.*3733_*3736del ENSP00000497581.1:n.*3733_*3736del
ENST00000650373.1:c.6188_6191del ENSP00000497174.1:p.Ile2063AsnfsTer3
ENST00000334267.11:c.2205+44655_2205+44658del ENSP00000334021.7:n.2205+44655_2205+44658...
ENST00000375735.6:c.6188_6191del ENSP00000364887.2:p.Ile2063AsnfsTer3
ENST00000398093.7:c.6188_6191del ENSP00000381167.3:p.Ile2063AsnfsTer3
NM_001080463.1:c.6188_6191del NP_001073932.1:p.Ile2063AsnfsTer3
NM_001377.2:c.6188_6191del NP_001368.2:p.Ile2063AsnfsTer3
XM_006718903.2:c.6188_6191del XP_006718966.1:p.Ile2063AsnfsTer3
XM_017018291.1:c.6188_6191del XP_016873780.1:p.Ile2063AsnfsTer3
XM_017018292.1:c.5570_5573del XP_016873781.1:p.Ile1857AsnfsTer3
XM_017018293.1:c.6188_6191del XP_016873782.1:p.Ile2063AsnfsTer3
NM_001377.3:c.6188_6191del MANE Select NP_001368.2:p.Ile2063AsnfsTer3
NM_001080463.2:c.6188_6191del MANE Plus Clinical NP_001073932.1:p.Ile2063AsnfsTer3
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