Canonical Allele Identifier: CA1996410811
Gene: DYNC2H1 HGNC NCBI

Linked Data

dbSNP Id: rs1861293926

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.103166105_103166109del , CM000673.2:g.103166105_103166109del GRCh38
NC_000011.9:g.103036834_103036838del , CM000673.1:g.103036834_103036838del GRCh37
NC_000011.8:g.102542044_102542048del NCBI36
NG_016423.1:g.61675_61679del
NG_016423.2:g.61675_61679del

Transcript Alleles

HGVS Amino-acid Change
ENST00000650373.2:c.4762+57_4762+61del MANE Plus Clinical ENSP00000497174.1:n.4762+57_4762+61del
ENST00000375735.7:c.4762+57_4762+61del MANE Select ENSP00000364887.2:n.4762+57_4762+61del
ENST00000649323.1:c.*2307+57_*2307+61del ENSP00000497581.1:n.*2307+57_*2307+61del
ENST00000650373.1:c.4762+57_4762+61del ENSP00000497174.1:n.4762+57_4762+61del
ENST00000334267.11:c.2205+31686_2205+31690del ENSP00000334021.7:n.2205+31686_2205+31690del
ENST00000375735.6:c.4762+57_4762+61del ENSP00000364887.2:n.4762+57_4762+61del
ENST00000398093.7:c.4762+57_4762+61del ENSP00000381167.3:n.4762+57_4762+61del
NM_001080463.1:c.4762+57_4762+61del NP_001073932.1:n.4762+57_4762+61del
NM_001377.2:c.4762+57_4762+61del NP_001368.2:n.4762+57_4762+61del
XM_006718903.2:c.4762+57_4762+61del XP_006718966.1:n.4762+57_4762+61del
XM_017018291.1:c.4762+57_4762+61del XP_016873780.1:n.4762+57_4762+61del
XM_017018292.1:c.4144+57_4144+61del XP_016873781.1:n.4144+57_4144+61del
XM_017018293.1:c.4762+57_4762+61del XP_016873782.1:n.4762+57_4762+61del
NM_001377.3:c.4762+57_4762+61del MANE Select NP_001368.2:n.4762+57_4762+61del
NM_001080463.2:c.4762+57_4762+61del MANE Plus Clinical NP_001073932.1:n.4762+57_4762+61del