Canonical Allele Identifier: CA2615744807
Gene: DYNC2H1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.103173328_103173329insAAAAA , CM000673.2:g.103173328_103173329insAAAAA GRCh38
NC_000011.9:g.103044057_103044058insAAAAA , CM000673.1:g.103044057_103044058insAAAAA GRCh37
NC_000011.8:g.102549267_102549268insAAAAA NCBI36
NG_016423.1:g.68898_68899insAAAAA
NG_016423.2:g.68898_68899insAAAAA

Transcript Alleles

HGVS Amino-acid Change
ENST00000650373.2:c.5558+23_5558+24insAAAAA MANE Plus Clinical ENSP00000497174.1:n.5558+23_5558+24insAAAAA
ENST00000375735.7:c.5558+23_5558+24insAAAAA MANE Select ENSP00000364887.2:n.5558+23_5558+24insAAAAA
ENST00000649323.1:c.*3103+23_*3103+24insAAAAA ENSP00000497581.1:n.*3103+23_*3103+24insAAAAA
ENST00000650373.1:c.5558+23_5558+24insAAAAA ENSP00000497174.1:n.5558+23_5558+24insAAAAA
ENST00000334267.11:c.2205+38909_2205+38910insAAAAA ENSP00000334021.7:n.2205+38909_2205+38910insAAAAA
ENST00000375735.6:c.5558+23_5558+24insAAAAA ENSP00000364887.2:n.5558+23_5558+24insAAAAA
ENST00000398093.7:c.5558+23_5558+24insAAAAA ENSP00000381167.3:n.5558+23_5558+24insAAAAA
NM_001080463.1:c.5558+23_5558+24insAAAAA NP_001073932.1:n.5558+23_5558+24insAAAAA
NM_001377.2:c.5558+23_5558+24insAAAAA NP_001368.2:n.5558+23_5558+24insAAAAA
XM_006718903.2:c.5558+23_5558+24insAAAAA XP_006718966.1:n.5558+23_5558+24insAAAAA
XM_017018291.1:c.5558+23_5558+24insAAAAA XP_016873780.1:n.5558+23_5558+24insAAAAA
XM_017018292.1:c.4940+23_4940+24insAAAAA XP_016873781.1:n.4940+23_4940+24insAAAAA
XM_017018293.1:c.5558+23_5558+24insAAAAA XP_016873782.1:n.5558+23_5558+24insAAAAA
NM_001377.3:c.5558+23_5558+24insAAAAA MANE Select NP_001368.2:n.5558+23_5558+24insAAAAA
NM_001080463.2:c.5558+23_5558+24insAAAAA MANE Plus Clinical NP_001073932.1:n.5558+23_5558+24insAAAAA