Canonical Allele Identifier: CA2830548560

Gene: DYNC2H1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.103173353_103173354insCACTAATAACCAAAATCAATCATTAGAAATGTAAAA , CM000673.2:g.103173353_103173354insCACTAATAACCAAAATCAATCATTAGAAATGTAAAA	GRCh38
NC_000011.9:g.103044082_103044083insCACTAATAACCAAAATCAATCATTAGAAATGTAAAA , CM000673.1:g.103044082_103044083insCACTAATAACCAAAATCAATCATTAGAAATGTAAAA	GRCh37
NC_000011.8:g.102549292_102549293insCACTAATAACCAAAATCAATCATTAGAAATGTAAAA	NCBI36
NG_016423.1:g.68923_68924insCACTAATAACCAAAATCAATCATTAGAAATGTAAAA
NG_016423.2:g.68923_68924insCACTAATAACCAAAATCAATCATTAGAAATGTAAAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650373.2:c.5558+48_5558+49insCACTAATAACCAAAATCAATCATTAGAAATGTAAAA MANE Plus Clinical	ENSP00000497174.1:n.5558+48_5558+49insCACTAATAACCAAAATCAATCAT...
ENST00000375735.7:c.5558+48_5558+49insCACTAATAACCAAAATCAATCATTAGAAATGTAAAA MANE Select	ENSP00000364887.2:n.5558+48_5558+49insCACTAATAACCAAAATCAATCAT...
ENST00000649323.1:c.*3103+48_*3103+49insCACTAATAACCAAAATCAATCATTAGAAATGTAAAA	ENSP00000497581.1:n.*3103+48_*3103+49insCACTAATAACCAAAATCAATC...
ENST00000650373.1:c.5558+48_5558+49insCACTAATAACCAAAATCAATCATTAGAAATGTAAAA	ENSP00000497174.1:n.5558+48_5558+49insCACTAATAACCAAAATCAATCAT...
ENST00000334267.11:c.2205+38934_2205+38935insCACTAATAACCAAAATCAATCATTAGAAATGTAAAA	ENSP00000334021.7:n.2205+38934_2205+38935insCACTAATAACCAAAATC...
ENST00000375735.6:c.5558+48_5558+49insCACTAATAACCAAAATCAATCATTAGAAATGTAAAA	ENSP00000364887.2:n.5558+48_5558+49insCACTAATAACCAAAATCAATCAT...
ENST00000398093.7:c.5558+48_5558+49insCACTAATAACCAAAATCAATCATTAGAAATGTAAAA	ENSP00000381167.3:n.5558+48_5558+49insCACTAATAACCAAAATCAATCAT...
NM_001080463.1:c.5558+48_5558+49insCACTAATAACCAAAATCAATCATTAGAAATGTAAAA	NP_001073932.1:n.5558+48_5558+49insCACTAATAACCAAAATCAATCATTAG...
NM_001377.2:c.5558+48_5558+49insCACTAATAACCAAAATCAATCATTAGAAATGTAAAA	NP_001368.2:n.5558+48_5558+49insCACTAATAACCAAAATCAATCATTAGAAA...
XM_006718903.2:c.5558+48_5558+49insCACTAATAACCAAAATCAATCATTAGAAATGTAAAA	XP_006718966.1:n.5558+48_5558+49insCACTAATAACCAAAATCAATCATTAG...
XM_017018291.1:c.5558+48_5558+49insCACTAATAACCAAAATCAATCATTAGAAATGTAAAA	XP_016873780.1:n.5558+48_5558+49insCACTAATAACCAAAATCAATCATTAG...
XM_017018292.1:c.4940+48_4940+49insCACTAATAACCAAAATCAATCATTAGAAATGTAAAA	XP_016873781.1:n.4940+48_4940+49insCACTAATAACCAAAATCAATCATTAG...
XM_017018293.1:c.5558+48_5558+49insCACTAATAACCAAAATCAATCATTAGAAATGTAAAA	XP_016873782.1:n.5558+48_5558+49insCACTAATAACCAAAATCAATCATTAG...
NM_001377.3:c.5558+48_5558+49insCACTAATAACCAAAATCAATCATTAGAAATGTAAAA MANE Select	NP_001368.2:n.5558+48_5558+49insCACTAATAACCAAAATCAATCATTAGAAA...
NM_001080463.2:c.5558+48_5558+49insCACTAATAACCAAAATCAATCATTAGAAATGTAAAA MANE Plus Clinical	NP_001073932.1:n.5558+48_5558+49insCACTAATAACCAAAATCAATCATTAG...